ClinVar Miner

List of variants reported as uncertain significance for hematologic disorder by Counsyl

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 601
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697 0.00325
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459 0.00076
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_001164277.2(SLC37A4):c.785+6A>T rs369358436 0.00072
NM_032043.3(BRIP1):c.317G>A (p.Arg106His) rs143615668 0.00048
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) rs149810307 0.00039
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571 0.00034
NM_000128.4(F11):c.1084G>A (p.Gly362Arg) rs142096488 0.00028
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893 0.00027
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser) rs185057307 0.00025
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly) rs762648754 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_005373.3(MPL):c.1666G>T (p.Val556Phe) rs150004498 0.00023
NM_000135.4(FANCA):c.3829-9G>A rs776077648 0.00022
NM_005373.3(MPL):c.209C>T (p.Pro70Leu) rs61754776 0.00021
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser) rs150313156 0.00019
NM_005373.3(MPL):c.655C>G (p.Gln219Glu) rs142737453 0.00017
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys) rs140804406 0.00017
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro) rs143026267 0.00017
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00015
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537 0.00014
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203 0.00012
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His) rs200894063 0.00012
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp) rs587778309 0.00011
NM_000136.3(FANCC):c.522-4A>G rs371422485 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_001164277.2(SLC37A4):c.71A>G (p.Tyr24Cys) rs569831771 0.00010
NM_001164277.2(SLC37A4):c.871+6C>T rs377101167 0.00010
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr) rs28363307 0.00010
NM_001164277.2(SLC37A4):c.*7T>G rs369243698 0.00009
NM_001164277.2(SLC37A4):c.-504G>A rs1045560610 0.00009
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247 0.00009
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256 0.00009
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp) rs373986283 0.00008
NM_000057.4(BLM):c.2720C>T (p.Thr907Met) rs367953471 0.00007
NM_000128.4(F11):c.783G>C (p.Glu261Asp) rs201079681 0.00007
NM_000057.4(BLM):c.715G>A (p.Asp239Asn) rs200756519 0.00006
NM_000135.4(FANCA):c.3349-3C>T rs373861415 0.00006
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu) rs201494304 0.00006
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321 0.00006
NM_000136.3(FANCC):c.843+5G>A rs369082921 0.00006
NM_001164277.2(SLC37A4):c.1125-7_1125-6del rs782342989 0.00006
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu) rs147755155 0.00006
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_032043.3(BRIP1):c.413T>C (p.Leu138Ser) rs587780251 0.00006
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr) rs201047375 0.00006
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu) rs759031349 0.00006
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly) rs587781383 0.00006
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met) rs201523760 0.00006
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg) rs587780255 0.00006
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) rs573992101 0.00006
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000136.3(FANCC):c.897-8T>C rs878853673 0.00005
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met) rs587781666 0.00005
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859 0.00004
NM_000128.4(F11):c.422C>T (p.Thr141Met) rs200593979 0.00004
NM_000128.4(F11):c.723C>G (p.Phe241Leu) rs281875265 0.00004
NM_000128.4(F11):c.803G>A (p.Arg268His) rs201688862 0.00004
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys) rs200291237 0.00004
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) rs370085403 0.00004
NM_000136.3(FANCC):c.1073-4G>A rs147695697 0.00004
NM_001164277.2(SLC37A4):c.986-11G>A rs1487063543 0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625 0.00004
NM_032043.3(BRIP1):c.1207C>T (p.Arg403Trp) rs369631413 0.00004
NM_032043.3(BRIP1):c.1655T>C (p.Ile552Thr) rs369340666 0.00004
NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile) rs777741543 0.00004
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731 0.00004
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp) rs578022079 0.00004
NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His) rs367816363 0.00004
NM_032043.3(BRIP1):c.3224C>T (p.Ser1075Leu) rs183928474 0.00004
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala) rs202072866 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_058216.3(RAD51C):c.635G>A (p.Arg212His) rs200857129 0.00004
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329 0.00004
NM_152564.5(VPS13B):c.5077-13G>A rs376055963 0.00004
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr) rs1024172175 0.00003
NM_000128.4(F11):c.1135+5G>A rs758515608 0.00003
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala) rs587778317 0.00003
NM_000135.4(FANCA):c.3798G>A (p.Met1266Ile) rs1443680543 0.00003
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu) rs774448881 0.00003
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile) rs587778323 0.00003
NM_000518.5(HBB):c.-75G>C rs63750400 0.00003
NM_001164277.2(SLC37A4):c.-535G>C rs138523194 0.00003
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630 0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416 0.00003
NM_032043.3(BRIP1):c.1171A>G (p.Ile391Val) rs863224798 0.00003
NM_032043.3(BRIP1):c.1444A>G (p.Ile482Val) rs142744352 0.00003
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu) rs4988349 0.00003
NM_032043.3(BRIP1):c.1652C>A (p.Ala551Glu) rs375246789 0.00003
NM_032043.3(BRIP1):c.1972C>T (p.Arg658Trp) rs786203170 0.00003
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His) rs200960251 0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 0.00003
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser) rs587780239 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_032043.3(BRIP1):c.2567A>G (p.Tyr856Cys) rs781556845 0.00003
NM_032043.3(BRIP1):c.2662C>T (p.His888Tyr) rs757668121 0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) rs200239986 0.00003
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val) rs761405340 0.00003
NM_032043.3(BRIP1):c.3651G>A (p.Trp1217Ter) rs542698396 0.00003
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp) rs587780253 0.00003
NM_058216.3(RAD51C):c.77A>T (p.Lys26Met) rs746026526 0.00003
NM_152564.5(VPS13B):c.11745+5G>A rs398124328 0.00003
NM_152564.5(VPS13B):c.2935-4C>T rs207469601 0.00003
NM_000128.4(F11):c.325+5G>T rs372102736 0.00002
NM_000128.4(F11):c.683G>A (p.Arg228Gln) rs281875246 0.00002
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys) rs750257902 0.00002
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys) rs587778312 0.00002
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys) rs777825824 0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057 0.00002
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val) rs750773229 0.00002
NM_000135.4(FANCA):c.4331_4332del (p.Pro1444fs) rs1030509993 0.00002
NM_000136.3(FANCC):c.457-7T>C rs749994612 0.00002
NM_001128227.3(GNE):c.23A>G (p.Gln8Arg) rs765794816 0.00002
NM_001164277.2(SLC37A4):c.-530G>A rs1417861590 0.00002
NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn) rs1035199340 0.00002
NM_001164277.2(SLC37A4):c.149-7C>T rs1316874319 0.00002
NM_001164277.2(SLC37A4):c.158C>T (p.Thr53Ile) rs953252068 0.00002
NM_001164277.2(SLC37A4):c.382-10T>C rs914753772 0.00002
NM_001164277.2(SLC37A4):c.382-4A>C rs923058912 0.00002
NM_001164277.2(SLC37A4):c.985+240_985+241insTA rs782397393 0.00002
NM_005476.7(GNE):c.1246G>A (p.Gly416Arg) rs866841518 0.00002
NM_015506.3(MMACHC):c.840del (p.Gly281fs) rs757384010 0.00002
NM_032043.3(BRIP1):c.1759C>G (p.His587Asp) rs876660519 0.00002
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met) rs28997572 0.00002
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly) rs4988356 0.00002
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln) rs587780248 0.00002
NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser) rs730881623 0.00002
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu) rs565458815 0.00002
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met) rs550031006 0.00002
NM_058216.3(RAD51C):c.537C>A (p.His179Gln) rs372385738 0.00002
NM_058216.3(RAD51C):c.719T>C (p.Ile240Thr) rs539341386 0.00002
NM_058216.3(RAD51C):c.746G>A (p.Arg249His) rs730881925 0.00002
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg) rs746218707 0.00001
NM_000057.4(BLM):c.3210+4A>G rs776621429 0.00001
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg) rs587779889 0.00001
NM_000057.4(BLM):c.4140T>G (p.Ser1380Arg) rs747834576 0.00001
NM_000128.3(F11):c.-456G>A rs1004061199 0.00001
NM_000128.4(F11):c.1103G>C (p.Gly368Ala) rs748926718 0.00001
NM_000128.4(F11):c.1275G>C (p.Trp425Cys) rs533626812 0.00001
NM_000128.4(F11):c.1517A>G (p.Asp506Gly) rs281875258 0.00001
NM_000128.4(F11):c.1546G>A (p.Val516Met) rs200622588 0.00001
NM_000128.4(F11):c.1627G>A (p.Glu543Lys) rs142952627 0.00001
NM_000128.4(F11):c.1718G>A (p.Gly573Glu) rs754109115 0.00001
NM_000128.4(F11):c.1789G>A (p.Glu597Lys) rs281875251 0.00001
NM_000128.4(F11):c.188C>T (p.Ala63Val) rs281875244 0.00001
NM_000128.4(F11):c.302A>G (p.Lys101Arg) rs281875272 0.00001
NM_000128.4(F11):c.374A>G (p.Tyr125Cys) rs1554082187 0.00001
NM_000128.4(F11):c.484C>T (p.Arg162Cys) rs748139184 0.00001
NM_000128.4(F11):c.599G>A (p.Cys200Tyr) rs757817254 0.00001
NM_000128.4(F11):c.680G>A (p.Gly227Asp) rs1489595409 0.00001
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe) rs980582362 0.00001
NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys) rs587778316 0.00001
NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu) rs779162871 0.00001
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg) rs191943709 0.00001
NM_000135.4(FANCA):c.343G>A (p.Gly115Arg) rs769824282 0.00001
NM_000135.4(FANCA):c.4167+2C>T rs374765708 0.00001
NM_000135.4(FANCA):c.793-3C>G rs749688050 0.00001
NM_000135.4(FANCA):c.839C>T (p.Ala280Val) rs767092317 0.00001
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358 0.00001
NM_001164277.2(SLC37A4):c.*1A>G rs782422570 0.00001
NM_001164277.2(SLC37A4):c.-499C>T rs1236559416 0.00001
NM_001164277.2(SLC37A4):c.-522G>A rs1375919926 0.00001
NM_001164277.2(SLC37A4):c.-527C>T rs1290401578 0.00001
NM_001164277.2(SLC37A4):c.1018T>G (p.Phe340Val) rs1474838395 0.00001
NM_001164277.2(SLC37A4):c.1125-6T>C rs782323567 0.00001
NM_001164277.2(SLC37A4):c.1142G>C (p.Gly381Ala) rs1157093654 0.00001
NM_001164277.2(SLC37A4):c.1208T>C (p.Ile403Thr) rs1555190374 0.00001
NM_001164277.2(SLC37A4):c.149-3C>T rs782625122 0.00001
NM_001164277.2(SLC37A4):c.149-6C>G rs1407509189 0.00001
NM_001164277.2(SLC37A4):c.185T>G (p.Ile62Ser) rs1555191621 0.00001
NM_001164277.2(SLC37A4):c.202G>T (p.Gly68Trp) rs193302885 0.00001
NM_001164277.2(SLC37A4):c.22T>C (p.Tyr8His) rs782578166 0.00001
NM_001164277.2(SLC37A4):c.479C>G (p.Ala160Gly) rs1438731101 0.00001
NM_001164277.2(SLC37A4):c.578A>G (p.Asp193Gly) rs777627677 0.00001
NM_001164277.2(SLC37A4):c.606G>T (p.Met202Ile) rs764654621 0.00001
NM_001164277.2(SLC37A4):c.625G>C (p.Gly209Arg) rs1272300904 0.00001
NM_001164277.2(SLC37A4):c.7G>C (p.Ala3Pro) rs1555191906 0.00001
NM_001164277.2(SLC37A4):c.872-11T>C rs1265857875 0.00001
NM_001164277.2(SLC37A4):c.872-6C>G rs781985446 0.00001
NM_001164277.2(SLC37A4):c.886T>G (p.Tyr296Asp) rs763008231 0.00001
NM_001164277.2(SLC37A4):c.923T>C (p.Met308Thr) rs1555190738 0.00001
NM_001164277.2(SLC37A4):c.931A>G (p.Met311Val) rs957014690 0.00001
NM_001164277.2(SLC37A4):c.93C>G (p.Phe31Leu) rs955402383 0.00001
NM_001164277.2(SLC37A4):c.985+259G>C rs1384684015 0.00001
NM_001164277.2(SLC37A4):c.985+271A>C rs1313690608 0.00001
NM_001164277.2(SLC37A4):c.986-12T>C rs1180556897 0.00001
NM_001164277.2(SLC37A4):c.986-15C>T rs782640506 0.00001
NM_001164277.2(SLC37A4):c.986-8C>T rs782425309 0.00001
NM_001164277.2(SLC37A4):c.989G>C (p.Trp330Ser) rs782282206 0.00001
NM_005476.7(GNE):c.127G>A (p.Val43Ile) rs1223454836 0.00001
NM_005476.7(GNE):c.1354A>G (p.Met452Val) rs746051210 0.00001
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg) rs762009737 0.00001
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe) rs372732220 0.00001
NM_005476.7(GNE):c.301C>T (p.Arg101Cys) rs148523065 0.00001
NM_005476.7(GNE):c.466T>C (p.Tyr156His) rs794727505 0.00001
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161 0.00001
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu) rs886046368 0.00001
NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp) rs769732556 0.00001
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622 0.00001
NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser) rs777511615 0.00001
NM_032043.3(BRIP1):c.1195G>A (p.Glu399Lys) rs587782816 0.00001
NM_032043.3(BRIP1):c.1321G>A (p.Val441Met) rs1060501782 0.00001
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099 0.00001
NM_032043.3(BRIP1):c.1473+6A>G rs587780827 0.00001
NM_032043.3(BRIP1):c.1474-3T>C rs552752779 0.00001
NM_032043.3(BRIP1):c.1586G>A (p.Gly529Glu) rs138784299 0.00001
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu) rs754414731 0.00001
NM_032043.3(BRIP1):c.1684A>G (p.Ile562Val) rs45533636 0.00001
NM_032043.3(BRIP1):c.1A>G (p.Met1Val) rs764585550 0.00001
NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu) rs587782356 0.00001
NM_032043.3(BRIP1):c.2258A>G (p.Asp753Gly) rs745578572 0.00001
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val) rs142806416 0.00001
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622 0.00001
NM_032043.3(BRIP1):c.2393G>A (p.Arg798Gln) rs375082407 0.00001
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His) rs45468199 0.00001
NM_032043.3(BRIP1):c.2492+5G>A rs763222019 0.00001
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu) rs587781830 0.00001
NM_032043.3(BRIP1):c.2579T>C (p.Leu860Pro) rs587780242 0.00001
NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met) rs587780244 0.00001
NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val) rs863224801 0.00001
NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr) rs786201632 0.00001
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile) rs786203224 0.00001
NM_032043.3(BRIP1):c.2948T>A (p.Ile983Asn) rs587781417 0.00001
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu) rs747907706 0.00001
NM_032043.3(BRIP1):c.3070G>A (p.Gly1024Arg) rs147119272 0.00001
NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg) rs763162379 0.00001
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn) rs373040333 0.00001
NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr) rs150813402 0.00001
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu) rs587780830 0.00001
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu) rs45603843 0.00001
NM_032043.3(BRIP1):c.655T>C (p.Cys219Arg) rs730881630 0.00001
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu) rs45459799 0.00001
NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe) rs1060501776 0.00001
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val) rs587781425 0.00001
NM_058216.3(RAD51C):c.1109G>A (p.Arg370Gln) rs373170458 0.00001
NM_058216.3(RAD51C):c.379C>A (p.Pro127Thr) rs587782222 0.00001
NM_058216.3(RAD51C):c.497T>C (p.Val166Ala) rs765300465 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys) rs587782474 0.00001
NM_152564.5(VPS13B):c.11223T>G (p.Ile3741Met) rs267601674 0.00001
NM_152564.5(VPS13B):c.1302+2dup rs766708621 0.00001
NM_152564.5(VPS13B):c.2651-10T>G rs398124330 0.00001
NM_000057.4(BLM):c.1070C>T (p.Thr357Ile) rs1555419001
NM_000057.4(BLM):c.129_130insTAT (p.Ser43_Asp44insTyr) rs778786003
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg) rs878853553
NM_000057.4(BLM):c.1624G>T (p.Asp542Tyr) rs1555419932
NM_000057.4(BLM):c.1634_1639del (p.Arg545_Glu546del) rs1555419934
NM_000057.4(BLM):c.1913A>G (p.Asn638Ser) rs587778110
NM_000057.4(BLM):c.1964TGA[1] (p.Met656del) rs1555420164
NM_000057.4(BLM):c.1978C>T (p.His660Tyr) rs139688226
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.2069C>T (p.Pro690Leu) rs761589072
NM_000057.4(BLM):c.2150G>C (p.Arg717Thr) rs28406486
NM_000057.4(BLM):c.228_233del (p.Leu77_Pro78del) rs1555418278
NM_000057.4(BLM):c.2407-7del rs769184675
NM_000057.4(BLM):c.2407-9del rs747699258
NM_000057.4(BLM):c.24T>G (p.Asn8Lys) rs1060500635
NM_000057.4(BLM):c.264CTT[1] (p.Phe90del) rs1555418301
NM_000057.4(BLM):c.3113G>C (p.Arg1038Thr) rs1555423425
NM_000057.4(BLM):c.318ATT[1] (p.Leu108del) rs1555418313
NM_000057.4(BLM):c.3242T>A (p.Val1081Glu) rs762716289
NM_000057.4(BLM):c.4039_4048del (p.Arg1347fs) rs1555425105
NM_000057.4(BLM):c.4123del (p.Ser1375fs) rs1555425410
NM_000057.4(BLM):c.4132G>T (p.Gly1378Ter) rs1555425417
NM_000057.4(BLM):c.4252T>A (p.Ter1418Lys) rs1555425441
NM_000057.4(BLM):c.483_491del (p.Asp161_Ser163del) rs773427744
NM_000057.4(BLM):c.489_497dup (p.Glu164_Ser166dup) rs1555418362
NM_000057.4(BLM):c.678_680dup (p.Asp227dup) rs1555418424
NM_000057.4(BLM):c.98+3_98+6del rs1555418015
NM_000128.4(F11):c.1171G>A (p.Gly391Arg) rs1554083456
NM_000128.4(F11):c.1217A>C (p.His406Pro) rs901732635
NM_000128.4(F11):c.1273T>A (p.Trp425Arg) rs1554083512
NM_000128.4(F11):c.1283C>T (p.Thr428Ile) rs1554083516
NM_000128.4(F11):c.1741T>C (p.Cys581Arg) rs1554084164
NM_000128.4(F11):c.218+4A>G rs767240420
NM_000128.4(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000128.4(F11):c.55+6delinsGAG rs1554081299
NM_000128.4(F11):c.756A>T (p.Arg252Ser) rs1441160252
NM_000128.4(F11):c.977G>A (p.Arg326His) rs1554082932
NM_000135.4(FANCA):c.1273G>C (p.Asp425His) rs1555561398
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1360-16_1363dup rs1555556321
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.1566+2C>T rs1316950815
NM_000135.4(FANCA):c.1625A>T (p.Glu542Val) rs587778310
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met) rs148154682
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del) rs1060501881
NM_000135.4(FANCA):c.16_36dup (p.Val6_Gly12dup) rs1555581601
NM_000135.4(FANCA):c.1776+7A>G rs1555552070
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del) rs1310756192
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly) rs587778313
NM_000135.4(FANCA):c.2593A>G (p.Ile865Val) rs878853662
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val) rs1555545588
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro) rs752735858
NM_000135.4(FANCA):c.2982C>G (p.Ser994Arg) rs1555540072
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu) rs1429943036
NM_000135.4(FANCA):c.3359_3361del (p.Cys1120del) rs1314042335
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp) rs587778318
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3703CAA[1] (p.Gln1236del) rs1555535513
NM_000135.4(FANCA):c.3725_3727del (p.Ile1242del) rs1441710252
NM_000135.4(FANCA):c.3784T>C (p.Phe1262Leu) rs1555534579
NM_000135.4(FANCA):c.3795G>C (p.Leu1265Phe) rs1010989878
NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del) rs927201841
NM_000135.4(FANCA):c.3989_3994del (p.Leu1330_Leu1331del) rs1555533593
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr) rs1555533313
NM_000135.4(FANCA):c.4080G>A (p.Met1360Ile) rs1555533300
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr) rs587778322
NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter) rs767234774
NM_000135.4(FANCA):c.752C>T (p.Ser251Leu) rs878853666
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000136.3(FANCC):c.1207T>C (p.Trp403Arg) rs1554829543
NM_000136.3(FANCC):c.1329+134del rs1554829392
NM_000136.3(FANCC):c.1329+157C>T rs1554829380
NM_000136.3(FANCC):c.1329+166_1329+168del rs1554829374
NM_000136.3(FANCC):c.1329+169C>T rs1554829373
NM_000136.3(FANCC):c.1329+265T>G rs1554829329
NM_000136.3(FANCC):c.1329+5del rs878853670
NM_000136.3(FANCC):c.1330-8T>C rs864622221
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.1670_1674dup (p.Ter559LysextTer?) rs1554827101
NM_000136.3(FANCC):c.214G>A (p.Ala72Thr) rs567465885
NM_000136.3(FANCC):c.558_563del (p.Cys187_Val188del) rs1554838595
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_000136.3(FANCC):c.941_943dup (p.Thr314dup) rs1554832862
NM_001128227.2(GNE):c.-60_-59delAA rs751222162
NM_001128227.2(GNE):c.-97T>G rs757093701
NM_001128227.3(GNE):c.3G>A (p.Met1Ile) rs1554668704
NM_001128227.3(GNE):c.4G>A (p.Glu2Lys) rs1403279875
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) rs794727279
NM_001128227.3(GNE):c.82_83dup (p.Asn28fs) rs1554664095
NM_001164277.2(SLC37A4):c.*11G>A rs978301169
NM_001164277.2(SLC37A4):c.*12G>A rs1221264103
NM_001164277.2(SLC37A4):c.*1AG[2] rs782195068
NM_001164277.2(SLC37A4):c.*5A>G rs373050741
NM_001164277.2(SLC37A4):c.*5A>T rs373050741
NM_001164277.2(SLC37A4):c.-10C>G rs782655025
NM_001164277.2(SLC37A4):c.-13G>T rs1555191914
NM_001164277.2(SLC37A4):c.-15C>T rs1210959942
NM_001164277.2(SLC37A4):c.-16C>A rs1555191915
NM_001164277.2(SLC37A4):c.-16C>G rs1555191915
NM_001164277.2(SLC37A4):c.-2C>T rs1318999121
NM_001164277.2(SLC37A4):c.-498G>T rs1555192177
NM_001164277.2(SLC37A4):c.-504G>C rs1045560610
NM_001164277.2(SLC37A4):c.-506A>G rs1555192180
NM_001164277.2(SLC37A4):c.-528C>T rs1555192184
NM_001164277.2(SLC37A4):c.-535G>A rs138523194
NM_001164277.2(SLC37A4):c.1028A>G (p.Tyr343Cys) rs1555190525
NM_001164277.2(SLC37A4):c.1038T>G (p.Ile346Met) rs1555190517
NM_001164277.2(SLC37A4):c.1039G>A (p.Ala347Thr) rs1555190513
NM_001164277.2(SLC37A4):c.103A>G (p.Met35Val) rs782533083
NM_001164277.2(SLC37A4):c.1043T>C (p.Leu348Pro) rs1210588522
NM_001164277.2(SLC37A4):c.1055T>C (p.Ile352Thr) rs1342845276
NM_001164277.2(SLC37A4):c.1057G>T (p.Ala353Ser) rs1555190504
NM_001164277.2(SLC37A4):c.1076C>T (p.Pro359Leu) rs1555190480
NM_001164277.2(SLC37A4):c.1079A>G (p.Asn360Ser) rs782182577
NM_001164277.2(SLC37A4):c.1115T>C (p.Met372Thr) rs1555190443
NM_001164277.2(SLC37A4):c.1124+4A>G rs1555190440
NM_001164277.2(SLC37A4):c.1125-14T>C rs1555190405
NM_001164277.2(SLC37A4):c.1125-6T>G rs782323567
NM_001164277.2(SLC37A4):c.1125-8C>T rs1555190404
NM_001164277.2(SLC37A4):c.1148C>T (p.Pro383Leu) rs1555190400
NM_001164277.2(SLC37A4):c.1150T>C (p.Phe384Leu) rs1555190399
NM_001164277.2(SLC37A4):c.1154G>C (p.Ser385Thr) rs782603818
NM_001164277.2(SLC37A4):c.1155C>A (p.Ser385Arg) rs1440498520
NM_001164277.2(SLC37A4):c.1165A>G (p.Lys389Glu) rs1555190395
NM_001164277.2(SLC37A4):c.1176T>A (p.Ser392Arg) rs782552989
NM_001164277.2(SLC37A4):c.1195G>A (p.Val399Met) rs1555190381
NM_001164277.2(SLC37A4):c.1201G>C (p.Glu401Gln) rs1555190378
NM_001164277.2(SLC37A4):c.1211G>C (p.Cys404Ser) rs781818280
NM_001164277.2(SLC37A4):c.1225G>A (p.Ala409Thr) rs886047748
NM_001164277.2(SLC37A4):c.122A>G (p.Glu41Gly) rs782470624
NM_001164277.2(SLC37A4):c.1241T>C (p.Leu414Pro) rs1555190359
NM_001164277.2(SLC37A4):c.1264G>A (p.Gly422Ser) rs1555190347
NM_001164277.2(SLC37A4):c.1268G>T (p.Arg423Leu) rs781849575
NM_001164277.2(SLC37A4):c.1270G>T (p.Val424Leu) rs1438944888
NM_001164277.2(SLC37A4):c.127C>G (p.Pro43Ala) rs781846380
NM_001164277.2(SLC37A4):c.1283C>T (p.Ala428Val) rs1245752008
NM_001164277.2(SLC37A4):c.13GGCTAT[3] (p.5GY[3]) rs782663171
NM_001164277.2(SLC37A4):c.140A>G (p.Asp47Gly) rs1555191832
NM_001164277.2(SLC37A4):c.149-11G>A rs1555191644
NM_001164277.2(SLC37A4):c.160A>G (p.Ser54Gly) rs1555191637
NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val) rs782083266
NM_001164277.2(SLC37A4):c.178T>C (p.Tyr60His) rs1555191626
NM_001164277.2(SLC37A4):c.184A>G (p.Ile62Val) rs1555191625
NM_001164277.2(SLC37A4):c.217C>A (p.Gln73Lys) rs1555191604
NM_001164277.2(SLC37A4):c.217C>G (p.Gln73Glu) rs1555191604
NM_001164277.2(SLC37A4):c.224G>C (p.Ser75Thr) rs1555191603
NM_001164277.2(SLC37A4):c.227C>T (p.Ala76Val) rs782429783
NM_001164277.2(SLC37A4):c.240C>G (p.Phe80Leu) rs1191615872
NM_001164277.2(SLC37A4):c.263G>T (p.Gly88Val) rs193302886
NM_001164277.2(SLC37A4):c.268G>A (p.Val90Ile) rs1555191582
NM_001164277.2(SLC37A4):c.278T>A (p.Phe93Tyr) rs782563826
NM_001164277.2(SLC37A4):c.282T>G (p.Phe94Leu) rs1555191568
NM_001164277.2(SLC37A4):c.302C>T (p.Pro101Leu) rs1555191550
NM_001164277.2(SLC37A4):c.309T>G (p.Phe103Leu) rs1171686379
NM_001164277.2(SLC37A4):c.332G>A (p.Gly111Asp) rs1356550790
NM_001164277.2(SLC37A4):c.368A>C (p.Lys123Thr) rs1555191517
NM_001164277.2(SLC37A4):c.371T>A (p.Val124Asp) rs1555191510
NM_001164277.2(SLC37A4):c.381+4A>G rs1555191499
NM_001164277.2(SLC37A4):c.382-15C>T rs1555191417
NM_001164277.2(SLC37A4):c.382-3C>G rs1555191407
NM_001164277.2(SLC37A4):c.382-6C>T rs756248657
NM_001164277.2(SLC37A4):c.382T>C (p.Trp128Arg) rs1555191405
NM_001164277.2(SLC37A4):c.382T>G (p.Trp128Gly) rs1555191405
NM_001164277.2(SLC37A4):c.388G>A (p.Glu130Lys) rs1555191401
NM_001164277.2(SLC37A4):c.389A>C (p.Glu130Ala) rs1465764979
NM_001164277.2(SLC37A4):c.402T>G (p.Phe134Leu) rs1555191386
NM_001164277.2(SLC37A4):c.422T>A (p.Leu141Gln) rs1555191378
NM_001164277.2(SLC37A4):c.430A>G (p.Ser144Gly) rs1555191372
NM_001164277.2(SLC37A4):c.44C>T (p.Ser15Leu) rs1555191883
NM_001164277.2(SLC37A4):c.452T>C (p.Leu151Pro) rs1555191353
NM_001164277.2(SLC37A4):c.46G>A (p.Ala16Thr) rs1555191879
NM_001164277.2(SLC37A4):c.4G>A (p.Ala2Thr) rs1555191907
NM_001164277.2(SLC37A4):c.508G>A (p.Ala170Thr) rs1397362093
NM_001164277.2(SLC37A4):c.520G>A (p.Ala174Thr) rs1432294427
NM_001164277.2(SLC37A4):c.550C>T (p.Leu184Phe) rs1555191258
NM_001164277.2(SLC37A4):c.560T>C (p.Ile187Thr) rs1452797070
NM_001164277.2(SLC37A4):c.570A>T (p.Glu190Asp) rs1555191237
NM_001164277.2(SLC37A4):c.580G>T (p.Val194Phe) rs1041686986
NM_001164277.2(SLC37A4):c.59G>C (p.Gly20Ala) rs193302881
NM_001164277.2(SLC37A4):c.611C>G (p.Ser204Cys) rs567419206
NM_001164277.2(SLC37A4):c.626+4A>C rs770644132
NM_001164277.2(SLC37A4):c.626+6C>T rs762685017
NM_001164277.2(SLC37A4):c.627-12T>C rs1555191134
NM_001164277.2(SLC37A4):c.627-3C>T rs1349289897
NM_001164277.2(SLC37A4):c.637GAG[1] (p.Glu214del) rs1555191121
NM_001164277.2(SLC37A4):c.679T>C (p.Trp227Arg) rs1176277831
NM_001164277.2(SLC37A4):c.680G>C (p.Trp227Ser) rs1555191101
NM_001164277.2(SLC37A4):c.682G>A (p.Val228Met) rs782167890
NM_001164277.2(SLC37A4):c.703G>C (p.Val235Leu) rs141105181
NM_001164277.2(SLC37A4):c.715G>A (p.Val239Ile) rs1555191080
NM_001164277.2(SLC37A4):c.721A>G (p.Thr241Ala) rs1555191079
NM_001164277.2(SLC37A4):c.725G>C (p.Cys242Ser) rs1555191077
NM_001164277.2(SLC37A4):c.728G>A (p.Cys243Tyr) rs1555191076
NM_001164277.2(SLC37A4):c.747C>A (p.Phe249Leu) rs782584884
NM_001164277.2(SLC37A4):c.760G>A (p.Glu254Lys) rs1555191060
NM_001164277.2(SLC37A4):c.779T>G (p.Leu260Arg) rs1555191054
NM_001164277.2(SLC37A4):c.803C>T (p.Ala268Val) rs1029013255
NM_001164277.2(SLC37A4):c.823G>A (p.Val275Ile) rs1226267943
NM_001164277.2(SLC37A4):c.827G>C (p.Gly276Ala) rs1350014866
NM_001164277.2(SLC37A4):c.862A>G (p.Met288Val) rs1555190944
NM_001164277.2(SLC37A4):c.866C>T (p.Ala289Val) rs1555190938
NM_001164277.2(SLC37A4):c.870G>C (p.Lys290Asn) rs1555190931
NM_001164277.2(SLC37A4):c.871+5G>A rs1250046397
NM_001164277.2(SLC37A4):c.871+6C>G rs377101167
NM_001164277.2(SLC37A4):c.872-10G>A rs1555190776
NM_001164277.2(SLC37A4):c.872-12C>T rs200279011
NM_001164277.2(SLC37A4):c.872-15_872-9dup rs782321213
NM_001164277.2(SLC37A4):c.874G>C (p.Gly292Arg) rs1320796917
NM_001164277.2(SLC37A4):c.877C>A (p.Leu293Met) rs1555190769
NM_001164277.2(SLC37A4):c.884A>G (p.Asn295Ser) rs1555190764
NM_001164277.2(SLC37A4):c.886T>C (p.Tyr296His) rs763008231
NM_001164277.2(SLC37A4):c.89C>A (p.Thr30Asn) rs987244110
NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp) rs539911116
NM_001164277.2(SLC37A4):c.904G>A (p.Gly302Ser) rs1555190753
NM_001164277.2(SLC37A4):c.920T>C (p.Met307Thr) rs1555190739
NM_001164277.2(SLC37A4):c.925G>A (p.Ala309Thr) rs1335122136
NM_001164277.2(SLC37A4):c.92T>A (p.Phe31Tyr) rs1555191854
NM_001164277.2(SLC37A4):c.937G>A (p.Val313Met) rs1555190726
NM_001164277.2(SLC37A4):c.958G>A (p.Val320Ile) rs1168556886
NM_001164277.2(SLC37A4):c.958G>T (p.Val320Leu) rs1168556886
NM_001164277.2(SLC37A4):c.985+219T>C rs1555190648
NM_001164277.2(SLC37A4):c.985+241C>G rs1555190639
NM_001164277.2(SLC37A4):c.985+244T>G rs1555190637
NM_001164277.2(SLC37A4):c.985+259G>A rs1384684015
NM_001164277.2(SLC37A4):c.985+3A>G rs782121210
NM_001164277.2(SLC37A4):c.985C>A (p.Leu329Ile) rs1555190563
NM_001164277.2(SLC37A4):c.986-14T>G rs863224211
NM_001164277.2(SLC37A4):c.986-4del rs1555190566
NM_001164277.2(SLC37A4):c.993C>G (p.Ile331Met) rs1555190553
NM_001164277.2(SLC37A4):c.997G>C (p.Val333Leu) rs782443770
NM_001164277.2(SLC37A4):c.99T>G (p.Phe33Leu) rs1555191848
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu) rs546510242
NM_005476.7(GNE):c.1039_1042delinsA (p.Leu347_His348delinsAsn) rs1554660095
NM_005476.7(GNE):c.1057A>G (p.Lys353Glu) rs1554660090
NM_005476.7(GNE):c.1099G>A (p.Val367Ile) rs1554659769
NM_005476.7(GNE):c.1268T>G (p.Ile423Arg) rs1313840587
NM_005476.7(GNE):c.1301A>G (p.Tyr434Cys) rs1447770049
NM_005476.7(GNE):c.1532C>T (p.Pro511Leu) rs1414079876
NM_005476.7(GNE):c.1567C>A (p.Leu523Met) rs1554658905
NM_005476.7(GNE):c.1567C>G (p.Leu523Val) rs1554658905
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys) rs986773986
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.2088GGT[1] (p.Val698del) rs1554657956
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.2T>C (p.Met1Thr) rs1554664086
NM_005476.7(GNE):c.620ATG[1] (p.Asp208del) rs1554661574
NM_005476.7(GNE):c.6GAA[1] (p.Lys3del) rs1554664082
NM_005476.7(GNE):c.748C>A (p.Leu250Met) rs886042585
NM_005476.7(GNE):c.769+3dup rs756817842
NM_005476.7(GNE):c.910G>A (p.Gly304Arg) rs755743750
NM_005476.7(GNE):c.992T>G (p.Val331Gly) rs1554660119
NM_015506.3(MMACHC):c.*5C>G rs557994288
NM_015506.3(MMACHC):c.277-8_277-3dup rs756072947
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del) rs1553162848
NM_015506.3(MMACHC):c.392_394del (p.Gln131del) rs779234540
NM_015506.3(MMACHC):c.395_397del (p.Arg132del) rs1455190457
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del) rs747550590
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.491TGC[2] (p.Leu166del) rs1249948465
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg) rs955468279
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del) rs1553162937
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.728del (p.Pro243fs) rs1409915649
NM_015506.3(MMACHC):c.745dup (p.Asp249fs) rs1553162993
NM_015506.3(MMACHC):c.771dup (p.Lys258fs) rs763886783
NM_015506.3(MMACHC):c.799dup (p.Arg267fs) rs1553163005
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015506.3(MMACHC):c.839del (p.Pro280fs) rs1553163017
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015506.3(MMACHC):c.848_*2del (p.Ter283PheextTer?) rs1553163021
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?) rs1553163024
NM_015506.3(MMACHC):c.849del (p.Ter283CysextTer?) rs1553163027
NM_017890.5(VPS13B):c.4159_4160delinsAAG (p.Leu1387fs) rs1554824897
NM_017890.5(VPS13B):c.4188A>T (p.Gln1396His) rs768432188
NM_017890.5(VPS13B):c.4196G>A (p.Gly1399Asp) rs1554824936
NM_017890.5(VPS13B):c.4228_4231dup (p.Arg1411fs) rs1554824976
NM_017890.5(VPS13B):c.4235C>A (p.Thr1412Asn) rs1554824983
NM_017890.5(VPS13B):c.4250C>G (p.Pro1417Arg) rs1554825009
NM_017890.5(VPS13B):c.4272C>G (p.Phe1424Leu) rs1554825023
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_032043.3(BRIP1):c.1040T>C (p.Leu347Pro) rs786201819
NM_032043.3(BRIP1):c.1106A>G (p.Tyr369Cys) rs786202218
NM_032043.3(BRIP1):c.1303C>T (p.His435Tyr) rs1060501758
NM_032043.3(BRIP1):c.1568C>T (p.Thr523Ile) rs1060501764
NM_032043.3(BRIP1):c.1571_1573del (p.Gln524_Ile525delinsLeu) rs1064795196
NM_032043.3(BRIP1):c.1591T>G (p.Phe531Val) rs4988350
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys) rs199616792
NM_032043.3(BRIP1):c.1702_1704del (p.Asn568del) rs1555602554
NM_032043.3(BRIP1):c.1760A>T (p.His587Leu) rs876660646
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.3(BRIP1):c.1941G>T (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.2450A>G (p.Tyr817Cys) rs1555580828
NM_032043.3(BRIP1):c.258_269del (p.Cys87_Cys90del) rs730881648
NM_032043.3(BRIP1):c.299T>C (p.Met100Thr) rs587782427
NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly) rs774605759
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala) rs45617634
NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu) rs61757643
NM_058216.3(RAD51C):c.115C>G (p.Leu39Val) rs759149207
NM_058216.3(RAD51C):c.271C>T (p.Leu91Phe) rs1555593653
NM_058216.3(RAD51C):c.317C>T (p.Ala106Val) rs1060502594
NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly) rs758029117
NM_058216.3(RAD51C):c.520A>G (p.Thr174Ala) rs864622278
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn) rs876659188
NM_058216.3(RAD51C):c.862A>G (p.Thr288Ala) rs587781574
NM_152564.5(VPS13B):c.10175ACA[1] (p.Asn3393del) rs1554581280
NM_152564.5(VPS13B):c.10352_10354del (p.Ala3451del) rs1554581420
NM_152564.5(VPS13B):c.10426T>C (p.Cys3476Arg) rs886062549
NM_152564.5(VPS13B):c.11134GAG[1] (p.Glu3713del) rs781133717
NM_152564.5(VPS13B):c.11491_11493dup (p.Val3831dup) rs1554588147
NM_152564.5(VPS13B):c.11783ACA[1] (p.Asn3929del) rs1554590369
NM_152564.5(VPS13B):c.11814_11816dup (p.Ser3939dup) rs1236948038
NM_152564.5(VPS13B):c.11838TTC[1] (p.Ser3948del) rs1554590420
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs) rs1554590433
NM_152564.5(VPS13B):c.11892_11895dup (p.Lys3966delinsCysTer) rs1554590486
NM_152564.5(VPS13B):c.11899dup (p.Thr3967fs) rs1554590501
NM_152564.5(VPS13B):c.11901_11904dup (p.His3969fs) rs1554590506
NM_152564.5(VPS13B):c.11906_11911dup (p.His3969_Tyr3970dup) rs1554590515
NM_152564.5(VPS13B):c.11907_11908insG (p.Tyr3970fs) rs1554590537
NM_152564.5(VPS13B):c.11917_11919dup (p.Asp3973dup) rs1554590552
NM_152564.5(VPS13B):c.11964_11984dup (p.Asn3989_Gly3995dup) rs1554590631
NM_152564.5(VPS13B):c.11965_11966dup (p.Asn3989fs) rs1554590620
NM_152564.5(VPS13B):c.11967_11968dup (p.Lys3990fs) rs1554590636
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter) rs769983613
NM_152564.5(VPS13B):c.1206+40T>C rs1554625938
NM_152564.5(VPS13B):c.1261_1272del (p.Lys421_Leu424del) rs1554633843
NM_152564.5(VPS13B):c.2034TAC[1] (p.Thr680del) rs1554645561
NM_152564.5(VPS13B):c.2579_2584dup (p.Cys861_Ser862insAsnCys) rs1554706171
NM_152564.5(VPS13B):c.3402_3437del (p.Gln1135_Leu1146del) rs1554793589
NM_152564.5(VPS13B):c.3503delinsAAAA (p.Gly1168delinsGluLys) rs1554806874
NM_152564.5(VPS13B):c.3751A>T (p.Thr1251Ser) rs184693266
NM_152564.5(VPS13B):c.4159C>A (p.Pro1387Thr) rs1554824649
NM_152564.5(VPS13B):c.4196T>C (p.Val1399Ala) rs1554824675
NM_152564.5(VPS13B):c.4218_4222dup (p.Val1408fs) rs1554824678
NM_152564.5(VPS13B):c.4224+1G>C rs376982982
NM_152564.5(VPS13B):c.4224+556A>G rs1554824890
NM_152564.5(VPS13B):c.4424_4429del (p.Asp1475_Ile1476del) rs1554826499
NM_152564.5(VPS13B):c.4687A>G (p.Met1563Val) rs886062541
NM_152564.5(VPS13B):c.4950-2dup rs1554852944
NM_152564.5(VPS13B):c.4971_4973del (p.Arg1658del) rs770497996
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.7969_7983del (p.Gly2657_Trp2661del) rs1554560677
NM_152564.5(VPS13B):c.8499_8501del (p.Ile2834del) rs1554566693
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522
NM_152564.5(VPS13B):c.8793-7_8793-6delinsT rs756641209
NM_152564.5(VPS13B):c.9943G>T (p.Val3315Phe) rs116746734

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