ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Ambry Genetics and "benign" from any submitter

Minimum review status of the submission from Ambry Genetics: Collection method of the submission from Ambry Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 435
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761 0.00484
NM_006306.4(SMC1A):c.*14C>T rs112727682 0.00436
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_001190417.2(ZNF674):c.692A>G (p.Lys231Arg) rs201621696 0.00400
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn) rs41277374 0.00382
NM_002769.5(PRSS1):c.592-24C>T rs192452846 0.00354
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser) rs145110602 0.00343
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_006393.3(NEBL):c.480+3A>G rs71578983 0.00336
NM_017950.4(CCDC40):c.1220T>C (p.Ile407Thr) rs141185078 0.00327
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_001363.4(DKC1):c.-142C>G rs199422241 0.00229
NM_021098.3(CACNA1H):c.4420C>T (p.Arg1474Trp) rs57105517 0.00209
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_007272.3(CTRC):c.640-12G>A rs183053579 0.00194
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) rs144200355 0.00179
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_001379110.1(SLC9A6):c.*8A>T rs200171451 0.00157
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu) rs147493628 0.00140
NM_145046.5(CALR3):c.848C>T (p.Thr283Ile) rs75099211 0.00138
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met) rs115119858 0.00125
NM_003179.3(SYP):c.877G>A (p.Gly293Ser) rs139475570 0.00122
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_000475.5(NR0B1):c.16C>A (p.His6Asn) rs191365011 0.00118
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_007272.3(CTRC):c.494-6C>T rs111790169 0.00096
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00093
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln) rs202065858 0.00088
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr) rs151086692 0.00081
NM_005732.4(RAD50):c.1544A>G (p.Asp515Gly) rs145843634 0.00076
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser) rs547860186 0.00072
NM_030777.4(SLC2A10):c.1010G>C (p.Gly337Ala) rs150745395 0.00071
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_002691.4(POLD1):c.581C>G (p.Ser194Cys) rs144656348 0.00061
NM_007272.3(CTRC):c.640-14C>T rs202049497 0.00060
NM_000975.5(RPL11):c.396+9A>G rs201786327 0.00058
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn) rs143948239 0.00057
NM_001277115.2(DNAH11):c.8093T>C (p.Leu2698Ser) rs187533108 0.00053
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00051
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_001365276.2(TNXB):c.1927A>G (p.Thr643Ala) rs201703963 0.00049
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) rs370932895 0.00048
NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu) rs370388701 0.00048
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_001277115.2(DNAH11):c.8888C>A (p.Ser2963Tyr) rs374033085 0.00047
NM_001277115.2(DNAH11):c.7553T>C (p.Val2518Ala) rs141807661 0.00046
NM_002691.4(POLD1):c.653G>A (p.Arg218His) rs150010804 0.00045
NM_000492.4(CFTR):c.958T>G (p.Leu320Val) rs144476686 0.00043
NM_001277115.2(DNAH11):c.5519C>T (p.Thr1840Ile) rs374351807 0.00043
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) rs146877597 0.00043
NM_001382.4(DPAGT1):c.729-4A>C rs199873583 0.00041
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala) rs149837553 0.00041
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112 0.00041
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_006231.4(POLE):c.2171C>T (p.Ala724Val) rs61734163 0.00040
NM_001277115.2(DNAH11):c.5138C>T (p.Thr1713Met) rs202034810 0.00039
NM_001277115.2(DNAH11):c.5671C>T (p.Pro1891Ser) rs201704416 0.00039
NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe) rs146750552 0.00039
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_005045.4(RELN):c.6166C>T (p.Pro2056Ser) rs200409290 0.00038
NM_001034853.2(RPGR):c.30T>A (p.Asp10Glu) rs202156474 0.00037
NM_004444.5(EPHB4):c.1384G>A (p.Gly462Arg) rs146674844 0.00036
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445 0.00035
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr) rs184585202 0.00034
NM_021098.3(CACNA1H):c.1795G>A (p.Ala599Thr) rs776370351 0.00033
NM_001277115.2(DNAH11):c.5434G>A (p.Val1812Met) rs376798792 0.00032
NM_005045.4(RELN):c.5668A>G (p.Ile1890Val) rs147026512 0.00031
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_001042492.3(NF1):c.1976G>A (p.Arg659Gln) rs151138158 0.00029
NM_201596.3(CACNB2):c.967G>A (p.Ala323Thr) rs561197163 0.00029
NM_001110556.2(FLNA):c.5313+4C>T rs377330443 0.00028
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275 0.00028
NM_001369.3(DNAH5):c.382G>A (p.Val128Met) rs200553244 0.00026
NM_005751.5(AKAP9):c.8677G>C (p.Asp2893His) rs142573103 0.00025
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp) rs199505541 0.00024
NM_001277115.2(DNAH11):c.11249T>G (p.Val3750Gly) rs199864090 0.00024
NM_001277115.2(DNAH11):c.9907A>G (p.Ile3303Val) rs376875223 0.00024
NM_001277115.2(DNAH11):c.3288G>A (p.Met1096Ile) rs575775297 0.00023
NM_001277115.2(DNAH11):c.5143C>T (p.Arg1715Cys) rs531475386 0.00022
NM_001369.3(DNAH5):c.11320T>C (p.Ser3774Pro) rs766646786 0.00022
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720 0.00022
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00021
NM_000545.8(HNF1A):c.1108-4G>A rs372892932 0.00020
NM_001277115.2(DNAH11):c.472C>T (p.His158Tyr) rs374186868 0.00020
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala) rs201486613 0.00020
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552 0.00019
NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn) rs138832246 0.00019
NM_001369.3(DNAH5):c.6385G>C (p.Val2129Leu) rs150095347 0.00019
NM_002691.4(POLD1):c.2007-5C>T rs199506387 0.00019
NM_001277115.2(DNAH11):c.3281T>A (p.Val1094Asp) rs369213196 0.00018
NM_001277115.2(DNAH11):c.4224G>T (p.Arg1408Ser) rs200216579 0.00018
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_001277115.2(DNAH11):c.2038G>A (p.Asp680Asn) rs201121146 0.00016
NM_001277115.2(DNAH11):c.2579C>T (p.Ala860Val) rs200459876 0.00016
NM_001277115.2(DNAH11):c.6017C>T (p.Pro2006Leu) rs117803903 0.00016
NM_001277115.2(DNAH11):c.7295G>A (p.Arg2432Gln) rs769003090 0.00016
NM_001277115.2(DNAH11):c.8230C>T (p.Arg2744Cys) rs374826188 0.00016
NM_021098.3(CACNA1H):c.6244C>T (p.Arg2082Trp) rs771719773 0.00016
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser) rs199966218 0.00015
NM_002317.7(LOX):c.308G>C (p.Arg103Pro) rs200513395 0.00015
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr) rs115622575 0.00014
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg) rs367826445 0.00014
NM_001277115.2(DNAH11):c.3109C>G (p.His1037Asp) rs370878348 0.00014
NM_001277115.2(DNAH11):c.9499A>C (p.Thr3167Pro) rs202224167 0.00014
NM_004006.3(DMD):c.3805C>T (p.His1269Tyr) rs151150099 0.00014
NM_001277115.2(DNAH11):c.5993G>A (p.Gly1998Asp) rs369704964 0.00013
NM_005045.4(RELN):c.1708C>G (p.His570Asp) rs374546580 0.00013
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met) rs539177302 0.00012
NM_001277115.2(DNAH11):c.3494A>G (p.Asp1165Gly) rs370436662 0.00012
NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg) rs763198301 0.00012
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_004006.3(DMD):c.9479G>A (p.Arg3160His) rs771392678 0.00012
NM_005045.4(RELN):c.7268G>A (p.Arg2423His) rs140660860 0.00012
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951 0.00011
NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala) rs761749382 0.00011
NM_001035.3(RYR2):c.6793-3C>T rs372314209 0.00011
NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln) rs782320818 0.00011
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788 0.00011
NM_001277115.2(DNAH11):c.11714G>C (p.Gly3905Ala) rs767288107 0.00011
NM_001277115.2(DNAH11):c.13243A>C (p.Lys4415Gln) rs372325290 0.00011
NM_001277115.2(DNAH11):c.3422A>T (p.Asp1141Val) rs373365959 0.00011
NM_001369.3(DNAH5):c.1955G>A (p.Ser652Asn) rs749126116 0.00011
NM_022489.4(INF2):c.3209G>A (p.Arg1070Gln) rs374424323 0.00011
NM_000492.4(CFTR):c.2957T>C (p.Leu986Pro) rs565971160 0.00010
NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His) rs781881872 0.00010
NM_001277115.2(DNAH11):c.1586C>G (p.Thr529Ser) rs183509559 0.00010
NM_001277115.2(DNAH11):c.5318A>G (p.His1773Arg) rs200295318 0.00010
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala) rs141971313 0.00010
NM_001203.3(BMPR1B):c.16G>A (p.Ala6Thr) rs143885868 0.00009
NM_001267550.2(TTN):c.68225-5T>C rs758273663 0.00009
NM_001277115.2(DNAH11):c.10121A>G (p.Lys3374Arg) rs763155183 0.00009
NM_001277115.2(DNAH11):c.11260C>G (p.Gln3754Glu) rs372918576 0.00009
NM_001277115.2(DNAH11):c.133G>A (p.Ala45Thr) rs772333047 0.00009
NM_001277115.2(DNAH11):c.2829T>G (p.Phe943Leu) rs367640600 0.00009
NM_001277115.2(DNAH11):c.3910C>T (p.Arg1304Cys) rs759530635 0.00009
NM_001277115.2(DNAH11):c.4900G>A (p.Ala1634Thr) rs375527837 0.00009
NM_007272.3(CTRC):c.533A>G (p.Gln178Arg) rs200678111 0.00009
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln) rs549467159 0.00008
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 0.00008
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) rs532102837 0.00008
NM_001277115.2(DNAH11):c.12569G>A (p.Gly4190Asp) rs374787771 0.00008
NM_001277115.2(DNAH11):c.6916G>A (p.Ala2306Thr) rs200223750 0.00008
NM_001277115.2(DNAH11):c.8764T>C (p.Phe2922Leu) rs552567607 0.00008
NM_002691.4(POLD1):c.2718-4G>A rs755348897 0.00008
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val) rs368917354 0.00007
NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu) rs561421783 0.00007
NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr) rs876657971 0.00007
NM_001277115.2(DNAH11):c.2525G>T (p.Arg842Met) rs546817580 0.00007
NM_001277115.2(DNAH11):c.6662C>T (p.Thr2221Ile) rs373624232 0.00007
NM_005502.4(ABCA1):c.5690G>A (p.Arg1897Gln) rs564049659 0.00007
NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp) rs539324457 0.00007
NM_021098.3(CACNA1H):c.3583C>T (p.Arg1195Trp) rs576035669 0.00007
NM_021098.3(CACNA1H):c.6199G>A (p.Val2067Ile) rs370883583 0.00007
NM_021098.3(CACNA1H):c.6611C>T (p.Ala2204Val) rs763675499 0.00007
NM_021098.3(CACNA1H):c.6817C>T (p.Leu2273Phe) rs201577113 0.00007
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu) rs139379666 0.00006
NM_000214.3(JAG1):c.1015G>T (p.Ala339Ser) rs751516838 0.00006
NM_000214.3(JAG1):c.2527C>T (p.Arg843Trp) rs201608372 0.00006
NM_000219.6(KCNE1):c.-3del rs397515878 0.00006
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile) rs377393842 0.00006
NM_001166108.2(PALLD):c.2084T>G (p.Leu695Arg) rs139375029 0.00006
NM_001267550.2(TTN):c.64673-5T>C rs530496528 0.00006
NM_001267550.2(TTN):c.83081G>A (p.Arg27694His) rs775499341 0.00006
NM_001277115.2(DNAH11):c.11458G>A (p.Val3820Ile) rs777011433 0.00006
NM_001277115.2(DNAH11):c.2402C>T (p.Thr801Met) rs370878968 0.00006
NM_001277115.2(DNAH11):c.3040C>G (p.Gln1014Glu) rs375314297 0.00006
NM_001277115.2(DNAH11):c.6514G>C (p.Val2172Leu) rs375008007 0.00006
NM_001277115.2(DNAH11):c.7279C>G (p.Gln2427Glu) rs202236144 0.00006
NM_001277115.2(DNAH11):c.991G>A (p.Glu331Lys) rs550602612 0.00006
NM_001369.3(DNAH5):c.13448C>T (p.Thr4483Met) rs141828476 0.00006
NM_001369.3(DNAH5):c.1612G>A (p.Glu538Lys) rs141651575 0.00006
NM_001369.3(DNAH5):c.632C>T (p.Ser211Leu) rs139857637 0.00006
NM_001379200.1(TBX1):c.1352G>C (p.Arg451Pro) rs755937050 0.00006
NM_002471.4(MYH6):c.2685G>A (p.Ala895=) rs752345245 0.00006
NM_004612.4(TGFBR1):c.94A>G (p.Thr32Ala) rs1319771049 0.00006
NM_005502.4(ABCA1):c.5492C>T (p.Ala1831Val) rs753324965 0.00006
NM_021098.3(CACNA1H):c.3143T>C (p.Leu1048Pro) rs377549389 0.00006
NM_021098.3(CACNA1H):c.3425G>A (p.Arg1142His) rs538758039 0.00006
NM_021098.3(CACNA1H):c.3448C>T (p.Arg1150Cys) rs753993842 0.00006
NM_021098.3(CACNA1H):c.3554C>T (p.Ala1185Val) rs769568324 0.00006
NM_021098.3(CACNA1H):c.3581G>A (p.Arg1194Gln) rs759668583 0.00006
NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln) rs554063452 0.00006
NM_000218.3(KCNQ1):c.1128+4C>T rs201590918 0.00005
NM_000335.5(SCN5A):c.4811-5C>T rs765962519 0.00005
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383 0.00005
NM_001277115.2(DNAH11):c.10796A>G (p.Gln3599Arg) rs371437266 0.00005
NM_001277115.2(DNAH11):c.10978G>C (p.Ala3660Pro) rs200057913 0.00005
NM_001277115.2(DNAH11):c.4230G>T (p.Trp1410Cys) rs367916239 0.00005
NM_001277115.2(DNAH11):c.7864G>A (p.Ala2622Thr) rs200462132 0.00005
NM_001369.3(DNAH5):c.3037A>G (p.Ser1013Gly) rs369783406 0.00005
NM_001369.3(DNAH5):c.5425G>A (p.Ala1809Thr) rs758513686 0.00005
NM_005751.5(AKAP9):c.6330+3A>G rs771419309 0.00005
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp) rs199920661 0.00005
NM_021098.3(CACNA1H):c.3449G>A (p.Arg1150His) rs373762102 0.00005
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993 0.00004
NM_001042492.3(NF1):c.2991-4A>G rs754414489 0.00004
NM_001042492.3(NF1):c.3484A>G (p.Met1162Val) rs773968270 0.00004
NM_001042492.3(NF1):c.5257G>A (p.Val1753Ile) rs148540952 0.00004
NM_001277115.2(DNAH11):c.11363T>C (p.Met3788Thr) rs374799169 0.00004
NM_001277115.2(DNAH11):c.12008A>T (p.Lys4003Met) rs751059559 0.00004
NM_001277115.2(DNAH11):c.168C>G (p.Asp56Glu) rs978373825 0.00004
NM_001277115.2(DNAH11):c.2504A>G (p.Lys835Arg) rs745305844 0.00004
NM_001277115.2(DNAH11):c.5991G>A (p.Pro1997=) rs763685245 0.00004
NM_001277115.2(DNAH11):c.698C>T (p.Pro233Leu) rs776376992 0.00004
NM_001277115.2(DNAH11):c.8335C>A (p.Leu2779Met) rs760409547 0.00004
NM_001277115.2(DNAH11):c.9292C>T (p.Arg3098Cys) rs769695221 0.00004
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His) rs781908326 0.00004
NM_001369.3(DNAH5):c.2944C>T (p.Arg982Cys) rs143673459 0.00004
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val) rs765981178 0.00004
NM_002691.4(POLD1):c.2718-5C>T rs368965066 0.00004
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn) rs370339027 0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_005188.4(CBL):c.195+3G>A rs762062705 0.00004
NM_006517.5(SLC16A2):c.1117G>A (p.Val373Met) rs201039304 0.00004
NM_020778.5(ALPK3):c.245C>T (p.Thr82Met) rs369383271 0.00004
NM_021098.3(CACNA1H):c.1609C>T (p.Arg537Cys) rs528341556 0.00004
NM_021098.3(CACNA1H):c.1895C>A (p.Pro632His) rs747807971 0.00004
NM_021098.3(CACNA1H):c.1985A>G (p.His662Arg) rs768565046 0.00004
NM_021098.3(CACNA1H):c.3338C>T (p.Pro1113Leu) rs753159318 0.00004
NM_021098.3(CACNA1H):c.3604C>T (p.Arg1202Trp) rs372472186 0.00004
NM_021098.3(CACNA1H):c.3806G>A (p.Arg1269His) rs749122105 0.00004
NM_021098.3(CACNA1H):c.6245G>A (p.Arg2082Gln) rs772785163 0.00004
NM_021098.3(CACNA1H):c.764T>G (p.Leu255Arg) rs369329819 0.00004
NM_000044.6(AR):c.2659A>G (p.Met887Val) rs755226547 0.00003
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219 0.00003
NM_000179.3(MSH6):c.1049C>T (p.Ala350Val) rs587782331 0.00003
NM_000371.4(TTR):c.-15C>T rs746692906 0.00003
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg) rs753733164 0.00003
NM_001035.3(RYR2):c.8209-4T>C rs371966353 0.00003
NM_001110556.2(FLNA):c.2077G>A (p.Ala693Thr) rs782158357 0.00003
NM_001110556.2(FLNA):c.3367T>G (p.Ser1123Ala) rs368441729 0.00003
NM_001277115.2(DNAH11):c.12100C>G (p.Pro4034Ala) rs759056367 0.00003
NM_001277115.2(DNAH11):c.4926A>C (p.Lys1642Asn) rs770520414 0.00003
NM_001277115.2(DNAH11):c.5155A>G (p.Thr1719Ala) rs369965539 0.00003
NM_001277115.2(DNAH11):c.5936T>C (p.Leu1979Pro) rs772070316 0.00003
NM_001277115.2(DNAH11):c.6089T>C (p.Leu2030Ser) rs769169485 0.00003
NM_001369.3(DNAH5):c.11533C>T (p.Arg3845Cys) rs565819640 0.00003
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg) rs576096758 0.00003
NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn) rs369751362 0.00003
NM_003803.4(MYOM1):c.3038C>T (p.Ala1013Val) rs557671408 0.00003
NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser) rs182015909 0.00003
NM_021098.3(CACNA1H):c.3263C>T (p.Pro1088Leu) rs373190026 0.00003
NM_021098.3(CACNA1H):c.6038T>C (p.Leu2013Pro) rs905456471 0.00003
NM_021098.3(CACNA1H):c.6295G>A (p.Glu2099Lys) rs774769004 0.00003
NM_021098.3(CACNA1H):c.6770G>A (p.Arg2257Gln) rs775972605 0.00003
NM_022489.4(INF2):c.580G>A (p.Val194Met) rs368298329 0.00003
NM_024675.4(PALB2):c.950C>T (p.Thr317Ile) rs45548638 0.00003
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199 0.00002
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=) rs990648341 0.00002
NM_000256.3(MYBPC3):c.1351+4G>A rs777487971 0.00002
NM_000384.3(APOB):c.1595G>A (p.Arg532Gln) rs753831464 0.00002
NM_001042492.3(NF1):c.2294G>A (p.Arg765His) rs199474777 0.00002
NM_001110556.2(FLNA):c.2662G>A (p.Glu888Lys) rs782580568 0.00002
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142 0.00002
NM_001277115.2(DNAH11):c.1055C>T (p.Thr352Met) rs200824684 0.00002
NM_001277115.2(DNAH11):c.11717C>T (p.Ala3906Val) rs200664169 0.00002
NM_001277115.2(DNAH11):c.2887A>G (p.Arg963Gly) rs185803317 0.00002
NM_001277115.2(DNAH11):c.355C>G (p.Pro119Ala) rs747193364 0.00002
NM_002294.3(LAMP2):c.183T>C (p.Tyr61=) rs397516736 0.00002
NM_004415.4(DSP):c.1903+4G>A rs757726608 0.00002
NM_005633.4(SOS1):c.1772A>G (p.Asn591Ser) rs757213444 0.00002
NM_005732.4(RAD50):c.1720A>C (p.Lys574Gln) rs779597467 0.00002
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480 0.00002
NM_021098.3(CACNA1H):c.1144G>A (p.Asp382Asn) rs375121203 0.00002
NM_021098.3(CACNA1H):c.1390G>A (p.Val464Met) rs61910721 0.00002
NM_021098.3(CACNA1H):c.2150C>T (p.Ser717Leu) rs768306211 0.00002
NM_021098.3(CACNA1H):c.3185C>T (p.Pro1062Leu) rs1245328322 0.00002
NM_021098.3(CACNA1H):c.3646G>A (p.Asp1216Asn) rs754581272 0.00002
NM_021098.3(CACNA1H):c.6346G>A (p.Glu2116Lys) rs768078771 0.00002
NM_021098.3(CACNA1H):c.6838C>T (p.Pro2280Ser) rs760918600 0.00002
NM_022489.4(INF2):c.1615G>A (p.Val539Met) rs769014945 0.00002
NM_000059.4(BRCA2):c.79A>G (p.Ile27Val) rs80359034 0.00001
NM_000077.5(CDKN2A):c.151-4G>C rs529380972 0.00001
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640 0.00001
NM_000335.5(SCN5A):c.1141-4C>T rs794728840 0.00001
NM_000371.4(TTR):c.337-3T>C rs774027595 0.00001
NM_000371.4(TTR):c.70-16T>C rs759512847 0.00001
NM_001042492.3(NF1):c.3362A>G (p.Glu1121Gly) rs757222815 0.00001
NM_001042492.3(NF1):c.3975-4G>A rs760207624 0.00001
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln) rs587781670 0.00001
NM_001103.4(ACTN2):c.616-3C>T rs111464645 0.00001
NM_001110556.2(FLNA):c.5533C>T (p.Arg1845Cys) rs782307604 0.00001
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581 0.00001
NM_001110556.2(FLNA):c.7361C>T (p.Thr2454Met) rs781788290 0.00001
NM_001276345.2(TNNT2):c.200-4C>G rs397516448 0.00001
NM_001277115.2(DNAH11):c.11459T>C (p.Val3820Ala) rs760795257 0.00001
NM_001277115.2(DNAH11):c.12329C>A (p.Pro4110His) rs753983449 0.00001
NM_001277115.2(DNAH11):c.2440G>A (p.Glu814Lys) rs529566924 0.00001
NM_001277115.2(DNAH11):c.2689G>A (p.Ala897Thr) rs767822847 0.00001
NM_001277115.2(DNAH11):c.2993A>G (p.Asn998Ser) rs368692202 0.00001
NM_001277115.2(DNAH11):c.346C>G (p.Gln116Glu) rs374802008 0.00001
NM_001277115.2(DNAH11):c.4318G>C (p.Val1440Leu) rs753773546 0.00001
NM_001277115.2(DNAH11):c.8680C>G (p.Leu2894Val) rs778125255 0.00001
NM_001277115.2(DNAH11):c.9176A>C (p.Tyr3059Ser) rs781116833 0.00001
NM_001369.3(DNAH5):c.4703G>A (p.Arg1568His) rs200994058 0.00001
NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser) rs780280433 0.00001
NM_005633.4(SOS1):c.3391+3T>C rs761579423 0.00001
NM_005751.5(AKAP9):c.5830A>G (p.Ile1944Val) rs587780849 0.00001
NM_007272.3(CTRC):c.369C>T (p.Ala123=) rs749606141 0.00001
NM_007294.4(BRCA1):c.1015A>G (p.Lys339Glu) rs55842957 0.00001
NM_007294.4(BRCA1):c.716A>G (p.His239Arg) rs80357396 0.00001
NM_021098.3(CACNA1H):c.1607C>T (p.Pro536Leu) rs1481524583 0.00001
NM_021098.3(CACNA1H):c.1684C>G (p.Pro562Ala) rs1474486162 0.00001
NM_021098.3(CACNA1H):c.1765G>A (p.Ala589Thr) rs769240762 0.00001
NM_021098.3(CACNA1H):c.1913G>T (p.Gly638Val) rs771036445 0.00001
NM_021098.3(CACNA1H):c.3314G>A (p.Arg1105His) rs764071122 0.00001
NM_021098.3(CACNA1H):c.3559G>A (p.Gly1187Arg) rs772258959 0.00001
NM_021098.3(CACNA1H):c.5777C>T (p.Ser1926Leu) rs756181994 0.00001
NM_021098.3(CACNA1H):c.5797A>G (p.Met1933Val) rs59950911 0.00001
NM_021098.3(CACNA1H):c.884G>A (p.Arg295Gln) rs749305814 0.00001
NM_021098.3(CACNA1H):c.947C>T (p.Thr316Ile) rs997846742 0.00001
NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg) rs554680915 0.00001
NM_022489.4(INF2):c.839A>G (p.His280Arg) rs759115381 0.00001
NM_000044.6(AR):c.1235C>A (p.Ala412Glu)
NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg)
NM_000059.4(BRCA2):c.9605C>T (p.Pro3202Leu) rs397507432
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000251.3(MSH2):c.1387-14_1387-11del rs370436680
NM_000363.5(TNNI3):c.173A>G (p.Lys58Arg) rs878853955
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000377.3(WAS):c.765G>C (p.Gln255His)
NM_000492.4(CFTR):c.1210-13_1210-11del rs2115902247
NM_000492.4(CFTR):c.3465C>A (p.Ser1155Arg)
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_001005242.3(PKP2):c.2168-4G>C rs376231586
NM_001035.3(RYR2):c.5653G>T (p.Gly1885Trp) rs200197527
NM_001037.5(SCN1B):c.522C>A (p.Leu174=) rs35478147
NM_001042492.3(NF1):c.6781C>T (p.His2261Tyr) rs750869272
NM_001042492.3(NF1):c.7381CTT[2] (p.Leu2463del) rs786203184
NM_001110556.2(FLNA):c.1018C>T (p.Arg340Cys)
NM_001110792.2(MECP2):c.785G>A (p.Arg262His) rs61750227
NM_001148.6(ANK2):c.3379+4C>A rs752152002
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys) rs201857158
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr) rs552951988
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.44210G>T (p.Arg14737Leu) rs373298007
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001277115.2(DNAH11):c.10303T>A (p.Cys3435Ser)
NM_001277115.2(DNAH11):c.10379C>T (p.Thr3460Met) rs573384750
NM_001277115.2(DNAH11):c.10399G>T (p.Ala3467Ser)
NM_001277115.2(DNAH11):c.11232C>G (p.Ile3744Met) rs201120788
NM_001277115.2(DNAH11):c.11276T>A (p.Ile3759Asn)
NM_001277115.2(DNAH11):c.11534G>A (p.Arg3845Gln) rs371438607
NM_001277115.2(DNAH11):c.12058A>G (p.Met4020Val)
NM_001277115.2(DNAH11):c.12317A>T (p.Tyr4106Phe)
NM_001277115.2(DNAH11):c.12670A>G (p.Thr4224Ala)
NM_001277115.2(DNAH11):c.13054A>T (p.Asn4352Tyr)
NM_001277115.2(DNAH11):c.1411T>G (p.Leu471Val)
NM_001277115.2(DNAH11):c.152G>C (p.Arg51Pro)
NM_001277115.2(DNAH11):c.1688A>G (p.Asn563Ser)
NM_001277115.2(DNAH11):c.1966C>T (p.Arg656Cys)
NM_001277115.2(DNAH11):c.2111A>T (p.Gln704Leu)
NM_001277115.2(DNAH11):c.3025C>G (p.Leu1009Val)
NM_001277115.2(DNAH11):c.3635A>G (p.Tyr1212Cys)
NM_001277115.2(DNAH11):c.4066A>G (p.Met1356Val)
NM_001277115.2(DNAH11):c.4127T>A (p.Val1376Asp)
NM_001277115.2(DNAH11):c.4777A>G (p.Arg1593Gly)
NM_001277115.2(DNAH11):c.5258A>G (p.Asp1753Gly)
NM_001277115.2(DNAH11):c.5294A>G (p.Tyr1765Cys)
NM_001277115.2(DNAH11):c.563T>G (p.Met188Arg) rs768697972
NM_001277115.2(DNAH11):c.6032C>T (p.Ala2011Val)
NM_001277115.2(DNAH11):c.6245G>C (p.Arg2082Pro)
NM_001277115.2(DNAH11):c.674A>G (p.Gln225Arg)
NM_001277115.2(DNAH11):c.7240T>G (p.Phe2414Val)
NM_001277115.2(DNAH11):c.7472G>A (p.Arg2491His) rs369438218
NM_001277115.2(DNAH11):c.7559T>C (p.Val2520Ala)
NM_001277115.2(DNAH11):c.7604G>A (p.Arg2535His)
NM_001277115.2(DNAH11):c.7973A>G (p.Tyr2658Cys) rs377216163
NM_001277115.2(DNAH11):c.811C>T (p.His271Tyr) rs751575627
NM_001277115.2(DNAH11):c.847A>G (p.Met283Val)
NM_001277115.2(DNAH11):c.8720C>A (p.Pro2907His)
NM_001277115.2(DNAH11):c.8880G>A (p.Met2960Ile)
NM_001277115.2(DNAH11):c.9325A>T (p.Thr3109Ser)
NM_001277115.2(DNAH11):c.9376G>A (p.Glu3126Lys)
NM_001277115.2(DNAH11):c.9448C>T (p.Arg3150Trp)
NM_001369.3(DNAH5):c.104C>T (p.Ala35Val)
NM_001369.3(DNAH5):c.1304C>T (p.Ala435Val)
NM_001369.3(DNAH5):c.2480G>A (p.Arg827His)
NM_001369.3(DNAH5):c.2722A>C (p.Asn908His)
NM_001369.3(DNAH5):c.40G>T (p.Val14Phe)
NM_001369.3(DNAH5):c.7309C>T (p.Arg2437Cys)
NM_001369.3(DNAH5):c.793G>A (p.Glu265Lys)
NM_001369.3(DNAH5):c.8174C>G (p.Ser2725Cys)
NM_001369.3(DNAH5):c.9230G>A (p.Arg3077Gln) rs113742238
NM_001369.3(DNAH5):c.9481G>T (p.Val3161Phe)
NM_002471.4(MYH6):c.3343-3del rs1027186100
NM_002474.3(MYH11):c.3651+5_3651+11delinsG rs371843272
NM_002609.4(PDGFRB):c.2971C>T (p.Arg991Cys)
NM_002609.4(PDGFRB):c.3275C>T (p.Ser1092Leu)
NM_002769.5(PRSS1):c.166C>T (p.Gln56Ter) rs147366981
NM_004990.4(MARS1):c.2392-5dup
NM_005732.4(RAD50):c.1794-3dup rs1554098578
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala) rs5744800
NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup) rs750049486
NM_006939.4(SOS2):c.1609G>T (p.Ala537Ser) rs748632850
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn) rs28897681
NM_014000.3(VCL):c.622+4C>G rs201020802
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu) rs61746139
NM_021098.3(CACNA1H):c.1835A>C (p.Asn612Thr) rs773099504
NM_021098.3(CACNA1H):c.1918C>G (p.Pro640Ala)
NM_021098.3(CACNA1H):c.3218C>G (p.Ser1073Cys) rs369474500
NM_021098.3(CACNA1H):c.3757C>T (p.Arg1253Cys) rs372000875
NM_021098.3(CACNA1H):c.3884T>C (p.Met1295Thr) rs755717160
NM_021098.3(CACNA1H):c.4408A>G (p.Lys1470Glu)
NM_021098.3(CACNA1H):c.6281C>G (p.Ser2094Trp) rs371550084
NM_021098.3(CACNA1H):c.6281C>T (p.Ser2094Leu) rs371550084
NM_021098.3(CACNA1H):c.6860G>A (p.Ser2287Asn)
NM_021098.3(CACNA1H):c.6887C>T (p.Ser2296Phe)
NM_021098.3(CACNA1H):c.7037G>C (p.Gly2346Ala) rs765057432
NM_022489.4(INF2):c.3257T>C (p.Leu1086Pro) rs368869709
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg) rs867336520
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del) rs764505909
NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)

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