ClinVar Miner

List of variants reported as uncertain significance by Genome Diagnostics Laboratory, University Medical Center Utrecht

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 504
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr) rs139515054 0.00222
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470 0.00160
NM_003665.4(FCN3):c.232+1G>A rs141300199 0.00153
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp) rs61754767 0.00121
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328 0.00116
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala) rs115333628 0.00116
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) rs201065230 0.00109
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670 0.00108
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) rs184394424 0.00107
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp) rs145208009 0.00101
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_031471.6(FERMT3):c.332G>A (p.Arg111His) rs145419469 0.00068
NM_001370298.3(FGD4):c.167-29728T>C rs561223009 0.00065
NM_025074.7(FRAS1):c.9827T>C (p.Val3276Ala) rs78006948 0.00064
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln) rs147596628 0.00058
NM_005245.4(FAT1):c.4516C>T (p.Arg1506Cys) rs199516712 0.00051
NM_021871.4(FGA):c.1417G>A (p.Asp473Asn) rs200378626 0.00048
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053 0.00045
NM_001083116.3(PRF1):c.368G>A (p.Arg123His) rs139336186 0.00044
NM_004715.5(CTDP1):c.668C>T (p.Thr223Met) rs149796311 0.00043
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln) rs150815925 0.00041
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220 0.00034
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801 0.00034
NM_170665.4(ATP2A2):c.3064A>G (p.Ile1022Val) rs140234740 0.00033
NM_015570.4(AUTS2):c.581C>T (p.Ser194Phe) rs150765660 0.00031
NM_207361.6(FREM2):c.2432G>A (p.Gly811Glu) rs147293913 0.00031
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val) rs180177501 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992 0.00022
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys) rs201510986 0.00021
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys) rs145293873 0.00021
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) rs147447269 0.00021
NM_006846.4(SPINK5):c.2419T>G (p.Cys807Gly) rs201815688 0.00021
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) rs202149931 0.00020
NM_144997.7(FLCN):c.396+4A>G rs370353839 0.00020
NM_000256.3(MYBPC3):c.2684G>A (p.Arg895His) rs372628478 0.00019
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00019
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile) rs369387744 0.00019
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala) rs201453600 0.00018
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys) rs72552292 0.00018
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253 0.00017
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe) rs104895157 0.00016
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_001040151.2(SCN3B):c.583G>A (p.Ala195Thr) rs375755770 0.00016
NM_001134363.3(RBM20):c.1455A>G (p.Ser485=) rs751559376 0.00016
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp) rs763039506 0.00016
NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly) rs148545460 0.00016
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00016
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) rs397516775 0.00016
NM_003172.4(SURF1):c.745A>G (p.Asn249Asp) rs587669420 0.00016
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp) rs730880478 0.00015
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln) rs149241435 0.00015
NM_000540.3(RYR1):c.641C>T (p.Thr214Met) rs727504129 0.00014
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_022114.4(PRDM16):c.3406G>A (p.Gly1136Arg) rs775245244 0.00014
NM_000431.4(MVK):c.877G>A (p.Val293Met) rs104895356 0.00013
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg) rs281875281 0.00013
NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln) rs142971473 0.00013
NM_001458.5(FLNC):c.1568T>C (p.Val523Ala) rs182845462 0.00012
NM_013266.4(CTNNA3):c.832G>A (p.Asp278Asn) rs143693772 0.00012
NM_014846.4(WASHC5):c.1217A>G (p.Asn406Ser) rs200456170 0.00012
NM_145046.5(CALR3):c.403G>A (p.Asp135Asn) rs143932873 0.00012
NM_145046.5(CALR3):c.564del (p.Gln189fs) rs747656642 0.00012
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553 0.00011
NM_001267550.2(TTN):c.22091G>A (p.Arg7364Gln) rs200128066 0.00011
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser) rs773035917 0.00011
NM_001386795.1(DTNA):c.1652G>A (p.Arg551His) rs142108185 0.00011
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_012464.5(TLL1):c.809C>G (p.Pro270Arg) rs560690746 0.00011
NM_013266.4(CTNNA3):c.1628G>A (p.Arg543Gln) rs369033938 0.00011
NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg) rs377646143 0.00011
NM_000093.5(COL5A1):c.1970C>T (p.Pro657Leu) rs149912828 0.00010
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_001103.4(ACTN2):c.1192C>T (p.Arg398Cys) rs148189507 0.00010
NM_001330588.2(TPP2):c.2591A>G (p.Lys864Arg) rs770781368 0.00010
NM_001386795.1(DTNA):c.614C>T (p.Thr205Met) rs201071018 0.00010
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) rs200516164 0.00010
NM_002471.4(MYH6):c.161G>A (p.Arg54Gln) rs727503239 0.00010
NM_003239.5(TGFB3):c.873G>A (p.Pro291=) rs370006165 0.00010
NM_025103.4(IFT74):c.968A>G (p.Glu323Gly) rs202139740 0.00010
NM_032578.4(MYPN):c.2864G>A (p.Arg955Gln) rs199476414 0.00010
NM_170707.4(LMNA):c.1202G>A (p.Arg401His) rs141490569 0.00010
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=) rs201999965 0.00009
NM_000722.4(CACNA2D1):c.1066A>G (p.Lys356Glu) rs201682618 0.00009
NM_000747.3(CHRNB1):c.647G>A (p.Arg216Gln) rs200684767 0.00009
NM_001267550.2(TTN):c.79334G>A (p.Arg26445His) rs764254441 0.00009
NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val) rs142391957 0.00009
NM_001458.5(FLNC):c.1605C>T (p.Cys535=) rs199976790 0.00009
NM_001458.5(FLNC):c.5888C>T (p.Thr1963Met) rs772580545 0.00009
NM_003476.5(CSRP3):c.379G>A (p.Val127Ile) rs149201422 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr) rs369497741 0.00009
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_001105206.3(LAMA4):c.2599C>A (p.Pro867Thr) rs782162498 0.00008
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln) rs375798246 0.00008
NM_002230.4(JUP):c.475G>T (p.Val159Leu) rs782702266 0.00008
NM_016599.5(MYOZ2):c.479C>T (p.Pro160Leu) rs200791464 0.00008
NM_000051.4(ATM):c.902G>A (p.Gly301Asp) rs202208861 0.00007
NM_001105206.3(LAMA4):c.874G>A (p.Glu292Lys) rs781838464 0.00007
NM_001267550.2(TTN):c.100396C>T (p.Arg33466Cys) rs371908649 0.00007
NM_001458.5(FLNC):c.1886G>A (p.Arg629Gln) rs765173966 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met) rs369167555 0.00007
NM_000051.4(ATM):c.3577-13T>C rs587780856 0.00006
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) rs376456050 0.00006
NM_000132.4(F8):c.3701A>T (p.His1234Leu) rs145507297 0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244 0.00006
NM_001083116.3(PRF1):c.666C>A (p.His222Gln) rs751247865 0.00006
NM_001134363.3(RBM20):c.3478G>A (p.Gly1160Ser) rs374611807 0.00006
NM_001148.6(ANK2):c.1397C>T (p.Thr466Met) rs786205722 0.00006
NM_001267550.2(TTN):c.3514C>A (p.Leu1172Ile) rs375735354 0.00006
NM_001267550.2(TTN):c.49937G>A (p.Arg16646Gln) rs746384579 0.00006
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly) rs375830234 0.00006
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup) rs772268958 0.00006
NM_001267550.2(TTN):c.97643G>A (p.Arg32548His) rs55676195 0.00006
NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met) rs140857707 0.00006
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438 0.00006
NM_005751.5(AKAP9):c.3793G>A (p.Glu1265Lys) rs1424485718 0.00006
NM_007078.3(LDB3):c.676G>A (p.Gly226Arg) rs771099131 0.00006
NM_012134.3(LMOD1):c.349C>T (p.Arg117Trp) rs559672115 0.00006
NM_014000.3(VCL):c.2467C>T (p.Arg823Trp) rs779047174 0.00006
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_014391.3(ANKRD1):c.544C>T (p.Arg182Cys) rs754717867 0.00006
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser) rs768095251 0.00006
NM_020774.4(MIB1):c.376C>T (p.Arg126Ter) rs190657514 0.00006
NM_021245.4(MYOZ1):c.551A>G (p.Tyr184Cys) rs201443990 0.00006
NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala) rs763880352 0.00006
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys) rs368812830 0.00006
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp) rs146907132 0.00006
NM_000051.4(ATM):c.4724G>A (p.Arg1575His) rs550552791 0.00005
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met) rs200289457 0.00005
NM_001105206.3(LAMA4):c.4208C>T (p.Pro1403Leu) rs1255830395 0.00005
NM_001134363.3(RBM20):c.2017C>T (p.Arg673Trp) rs397516599 0.00005
NM_001267550.2(TTN):c.59456C>T (p.Thr19819Ile) rs758287054 0.00005
NM_001267550.2(TTN):c.80168G>A (p.Arg26723His) rs371615296 0.00005
NM_001267550.2(TTN):c.90452T>C (p.Leu30151Pro) rs568322187 0.00005
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538 0.00005
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) rs141121678 0.00005
NM_001378615.1(CC2D2A):c.4553G>A (p.Arg1518Gln) rs200645738 0.00005
NM_001458.5(FLNC):c.2425G>A (p.Val809Met) rs775770671 0.00005
NM_001458.5(FLNC):c.4054C>T (p.Arg1352Cys) rs367931139 0.00005
NM_002230.4(JUP):c.460G>A (p.Glu154Lys) rs782765314 0.00005
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn) rs760826751 0.00005
NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys) rs1472690723 0.00005
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala) rs201053795 0.00005
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser) rs778181932 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu) rs773819168 0.00004
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) rs373730381 0.00004
NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln) rs763891399 0.00004
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys) rs199473335 0.00004
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe) rs769531546 0.00004
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His) rs757918924 0.00004
NM_001267550.2(TTN):c.4274C>T (p.Ala1425Val) rs746063269 0.00004
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser) rs757343393 0.00004
NM_001267550.2(TTN):c.92716G>A (p.Asp30906Asn) rs534881266 0.00004
NM_001276345.2(TNNT2):c.461G>A (p.Arg154Gln) rs745632066 0.00004
NM_001308093.3(GATA4):c.860C>T (p.Ala287Val) rs116430078 0.00004
NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val) rs769622495 0.00004
NM_001386795.1(DTNA):c.2168C>T (p.Thr723Met) rs200977103 0.00004
NM_001458.5(FLNC):c.1936G>A (p.Asp646Asn) rs372668691 0.00004
NM_001605.3(AARS1):c.1102C>T (p.Pro368Ser) rs371184292 0.00004
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) rs786204291 0.00004
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln) rs193922667 0.00004
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile) rs777510517 0.00004
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys) rs753033333 0.00004
NM_004517.4(ILK):c.551A>C (p.Lys184Thr) rs762454800 0.00004
NM_007078.3(LDB3):c.944C>T (p.Pro315Leu) rs371649487 0.00004
NM_013266.4(CTNNA3):c.1721T>C (p.Leu574Pro) rs375428912 0.00004
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser) rs375260339 0.00004
NM_020778.5(ALPK3):c.2444G>A (p.Gly815Glu) rs199907297 0.00004
NM_144573.4(NEXN):c.1471G>C (p.Glu491Gln) rs373057251 0.00004
NM_000132.4(F8):c.733C>T (p.Arg245Trp) rs781943956 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000243.3(MEFV):c.2164G>A (p.Val722Met) rs104895201 0.00003
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His) rs534345197 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000335.5(SCN5A):c.1663G>A (p.Glu555Lys) rs199473123 0.00003
NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile) rs557957405 0.00003
NM_001103.4(ACTN2):c.1162T>A (p.Trp388Arg) rs376144003 0.00003
NM_001103.4(ACTN2):c.1541T>C (p.Ile514Thr) rs371954663 0.00003
NM_001103.4(ACTN2):c.1984C>T (p.Arg662Trp) rs150021739 0.00003
NM_001159699.2(FHL1):c.792C>T (p.Tyr264=) rs755385158 0.00003
NM_001232.4(CASQ2):c.141G>C (p.Lys47Asn) rs1553197917 0.00003
NM_001242896.3(DEPDC5):c.3461C>T (p.Ser1154Phe) rs578244490 0.00003
NM_001267550.2(TTN):c.28137A>G (p.Ile9379Met) rs1060500516 0.00003
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val) rs373815064 0.00003
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val) rs374203813 0.00003
NM_001267550.2(TTN):c.64916G>A (p.Arg21639Gln) rs373282633 0.00003
NM_001267550.2(TTN):c.72271G>C (p.Asp24091His) rs878924658 0.00003
NM_001267550.2(TTN):c.87815A>G (p.Tyr29272Cys) rs886039083 0.00003
NM_001267550.2(TTN):c.90845C>T (p.Thr30282Met) rs756769026 0.00003
NM_001267550.2(TTN):c.93940G>A (p.Gly31314Ser) rs368608059 0.00003
NM_002471.4(MYH6):c.3583C>T (p.Arg1195Cys) rs769756450 0.00003
NM_003476.5(CSRP3):c.140C>T (p.Thr47Met) rs397516851 0.00003
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser) rs145484092 0.00003
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp) rs775636212 0.00003
NM_004006.3(DMD):c.9649T>C (p.Tyr3217His) rs766981643 0.00003
NM_004415.4(DSP):c.6368G>A (p.Arg2123His) rs142272846 0.00003
NM_007294.4(BRCA1):c.-19-22A>G rs774892235 0.00003
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys) rs749381544 0.00003
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu) rs576030298 0.00003
NM_144573.4(NEXN):c.1053+1G>A rs397517843 0.00003
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn) rs370656306 0.00003
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His) rs782196269 0.00002
NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) rs200108320 0.00002
NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe) rs75610894 0.00002
NM_000243.3(MEFV):c.56A>G (p.Tyr19Cys) rs769605806 0.00002
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys) rs104895110 0.00002
NM_000256.3(MYBPC3):c.133G>A (p.Gly45Arg) rs775837337 0.00002
NM_000256.3(MYBPC3):c.2275G>A (p.Glu759Lys) rs750810342 0.00002
NM_000256.3(MYBPC3):c.2500C>T (p.Arg834Trp) rs752007810 0.00002
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=) rs727503181 0.00002
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His) rs727504396 0.00002
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His) rs376461745 0.00002
NM_000257.4(MYH7):c.1384A>T (p.Ile462Phe) rs397516105 0.00002
NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) rs755392435 0.00002
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His) rs750836033 0.00002
NM_000258.3(MYL3):c.187C>T (p.Arg63Cys) rs565312070 0.00002
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_001005242.3(PKP2):c.1379-1972G>A rs779392697 0.00002
NM_001035.3(RYR2):c.9259C>T (p.Pro3087Ser) rs777736127 0.00002
NM_001101362.3(KBTBD13):c.251G>C (p.Cys84Ser) rs999785767 0.00002
NM_001134363.3(RBM20):c.3550G>A (p.Ala1184Thr) rs1300657058 0.00002
NM_001243133.2(NLRP3):c.1642C>T (p.Arg548Cys) rs201678213 0.00002
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu) rs727504491 0.00002
NM_001267550.2(TTN):c.16576A>C (p.Asn5526His) rs752558197 0.00002
NM_001267550.2(TTN):c.343G>A (p.Val115Met) rs564777385 0.00002
NM_001267550.2(TTN):c.35351G>A (p.Arg11784His) rs756874306 0.00002
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.49570C>T (p.Arg16524Cys) rs779336886 0.00002
NM_001267550.2(TTN):c.55808C>T (p.Pro18603Leu) rs531760043 0.00002
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly) rs727504490 0.00002
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln) rs201448988 0.00002
NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln) rs536183519 0.00002
NM_001267550.2(TTN):c.87041G>A (p.Arg29014Gln) rs772536290 0.00002
NM_001458.5(FLNC):c.7382G>A (p.Ser2461Asn) rs550547714 0.00002
NM_001458.5(FLNC):c.977T>C (p.Val326Ala) rs570010538 0.00002
NM_001927.4(DES):c.1308G>C (p.Arg436Ser) rs985185092 0.00002
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro) rs201988564 0.00002
NM_002471.4(MYH6):c.3468C>T (p.Gly1156=) rs545420992 0.00002
NM_002471.4(MYH6):c.4010C>T (p.Ser1337Leu) rs758922922 0.00002
NM_004006.3(DMD):c.1945C>T (p.Arg649Trp) rs770572107 0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_004415.4(DSP):c.82T>G (p.Tyr28Asp) rs766454930 0.00002
NM_013266.4(CTNNA3):c.2104A>G (p.Ile702Val) rs1197911296 0.00002
NM_013266.4(CTNNA3):c.67G>A (p.Val23Met) rs776250185 0.00002
NM_014476.6(PDLIM3):c.803C>T (p.Pro268Leu) rs1188446991 0.00002
NM_018685.5(ANLN):c.688C>T (p.Pro230Ser) rs369437029 0.00002
NM_020297.4(ABCC9):c.3221A>G (p.Asn1074Ser) rs765629988 0.00002
NM_020433.5(JPH2):c.1564C>T (p.Arg522Trp) rs770850932 0.00002
NM_024334.3(TMEM43):c.1000+16G>A rs377252553 0.00002
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser) rs200802591 0.00002
NM_053025.4(MYLK):c.304G>C (p.Gly102Arg) rs1345796517 0.00002
NM_144573.4(NEXN):c.874G>A (p.Asp292Asn) rs373377525 0.00002
NM_170707.4(LMNA):c.1879C>T (p.Arg627Cys) rs777841827 0.00002
NM_198428.3(BBS9):c.2059A>G (p.Lys687Glu) rs760800602 0.00002
NM_000051.4(ATM):c.4420C>G (p.His1474Asp) rs587779840 0.00001
NM_000059.4(BRCA2):c.1780A>C (p.Ile594Leu) rs431825287 0.00001
NM_000093.5(COL5A1):c.3725C>T (p.Thr1242Ile) rs769091549 0.00001
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln) rs780651466 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000243.3(MEFV):c.536G>A (p.Ser179Asn) rs104895125 0.00001
NM_000256.3(MYBPC3):c.1985T>C (p.Val662Ala) rs772970643 0.00001
NM_000257.4(MYH7):c.328G>A (p.Gly110Ser) rs763893822 0.00001
NM_000257.4(MYH7):c.3828G>C (p.Gln1276His) rs1892377170 0.00001
NM_000257.4(MYH7):c.5527A>G (p.Ser1843Gly) rs200157204 0.00001
NM_000258.3(MYL3):c.220G>A (p.Gly74Arg) rs730880956 0.00001
NM_000335.5(SCN5A):c.1820G>T (p.Gly607Val) rs757119370 0.00001
NM_000540.3(RYR1):c.15021G>C (p.Gln5007His) rs376293495 0.00001
NM_001005242.3(PKP2):c.2213T>C (p.Val738Ala) rs1555141066 0.00001
NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu) rs560220280 0.00001
NM_001035.3(RYR2):c.10816G>A (p.Ala3606Thr) rs772511386 0.00001
NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu) rs537596448 0.00001
NM_001042432.2(CLN3):c.1017C>G (p.Cys339Trp) rs768479701 0.00001
NM_001077653.2(TBX20):c.4G>A (p.Glu2Lys) rs752468331 0.00001
NM_001080467.3(MYO5B):c.655C>T (p.Arg219Cys) rs755378266 0.00001
NM_001083116.3(PRF1):c.260G>A (p.Arg87His) rs557951406 0.00001
NM_001103.4(ACTN2):c.2569G>C (p.Asp857His) rs533267299 0.00001
NM_001105206.3(LAMA4):c.1778A>G (p.His593Arg) rs751004946 0.00001
NM_001105206.3(LAMA4):c.2057-2A>T rs1780342227 0.00001
NM_001105206.3(LAMA4):c.2305T>C (p.Phe769Leu) rs1554334959 0.00001
NM_001105206.3(LAMA4):c.3109C>T (p.Arg1037Ter) rs782727584 0.00001
NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys) rs535839168 0.00001
NM_001267550.2(TTN):c.105083C>T (p.Thr35028Met) rs56001826 0.00001
NM_001267550.2(TTN):c.1168G>A (p.Gly390Ser) rs794729412 0.00001
NM_001267550.2(TTN):c.1292C>T (p.Ala431Val) rs1417215136 0.00001
NM_001267550.2(TTN):c.16179T>A (p.Asp5393Glu) rs768837104 0.00001
NM_001267550.2(TTN):c.30492G>T (p.Glu10164Asp) rs1064797276 0.00001
NM_001267550.2(TTN):c.41180G>A (p.Arg13727His) rs750520224 0.00001
NM_001267550.2(TTN):c.55302G>A (p.Gln18434=) rs567251026 0.00001
NM_001267550.2(TTN):c.62219A>T (p.Glu20740Val) rs559490402 0.00001
NM_001267550.2(TTN):c.6383G>C (p.Trp2128Ser) rs751340835 0.00001
NM_001267550.2(TTN):c.66780G>C (p.Glu22260Asp) rs574543857 0.00001
NM_001267550.2(TTN):c.66820C>T (p.Arg22274Cys) rs770627108 0.00001
NM_001267550.2(TTN):c.85646C>T (p.Thr28549Ile) rs774609232 0.00001
NM_001267550.2(TTN):c.93154G>A (p.Val31052Met) rs764170998 0.00001
NM_001267550.2(TTN):c.94880T>C (p.Ile31627Thr) rs751714990 0.00001
NM_001267550.2(TTN):c.96566A>T (p.Glu32189Val) rs1002475776 0.00001
NM_001276345.2(TNNT2):c.431G>A (p.Arg144Gln) rs754037135 0.00001
NM_001386795.1(DTNA):c.1007C>T (p.Pro336Leu) rs1293106380 0.00001
NM_001386795.1(DTNA):c.784C>T (p.His262Tyr) rs369043538 0.00001
NM_001458.5(FLNC):c.2627G>T (p.Gly876Val) rs534407127 0.00001
NM_001927.4(DES):c.79G>A (p.Gly27Ser) rs727504877 0.00001
NM_001943.5(DSG2):c.445G>A (p.Val149Ile) rs372606274 0.00001
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270 0.00001
NM_002230.4(JUP):c.1667T>C (p.Met556Thr) rs781884735 0.00001
NM_002230.4(JUP):c.374C>T (p.Ser125Leu) rs782527770 0.00001
NM_002471.4(MYH6):c.1545C>T (p.Gly515=) rs200235378 0.00001
NM_002471.4(MYH6):c.5407G>C (p.Glu1803Gln) rs768893054 0.00001
NM_002471.4(MYH6):c.5653G>A (p.Glu1885Lys) rs760353963 0.00001
NM_002474.3(MYH11):c.1402-12C>G rs769036516 0.00001
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210 0.00001
NM_003098.3(SNTA1):c.497-5A>G rs202178576 0.00001
NM_003476.5(CSRP3):c.98C>T (p.Thr33Met) rs758947977 0.00001
NM_004006.3(DMD):c.3937A>G (p.Met1313Val) rs794729003 0.00001
NM_004281.4(BAG3):c.452G>A (p.Cys151Tyr) rs770678896 0.00001
NM_004281.4(BAG3):c.957C>G (p.Asn319Lys) rs767223665 0.00001
NM_004415.4(DSP):c.2933T>A (p.Ile978Lys) rs1060500615 0.00001
NM_004415.4(DSP):c.6059G>C (p.Gly2020Ala) rs1327599046 0.00001
NM_004415.4(DSP):c.695G>A (p.Arg232His) rs749438581 0.00001
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met) rs151309106 0.00001
NM_004517.4(ILK):c.721C>T (p.Arg241Trp) rs765298592 0.00001
NM_004715.5(CTDP1):c.1723A>G (p.Ser575Gly) rs779827748 0.00001
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys) rs727505179 0.00001
NM_006258.4(PRKG1):c.1016T>C (p.Leu339Ser) rs775720873 0.00001
NM_007078.3(LDB3):c.1870G>A (p.Ala624Thr) rs879218802 0.00001
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn) rs549755590 0.00001
NM_013266.4(CTNNA3):c.1351C>T (p.His451Tyr) rs1844757301 0.00001
NM_013266.4(CTNNA3):c.451G>T (p.Val151Leu) rs1418212392 0.00001
NM_013266.4(CTNNA3):c.889C>T (p.Arg297Ter) rs771161312 0.00001
NM_014000.3(VCL):c.1298G>A (p.Arg433His) rs754046223 0.00001
NM_014000.3(VCL):c.1681A>G (p.Arg561Gly) rs1321164216 0.00001
NM_014000.3(VCL):c.2285G>A (p.Arg762Gln) rs540039788 0.00001
NM_014000.3(VCL):c.2848G>A (p.Glu950Lys) rs1174019524 0.00001
NM_014000.3(VCL):c.539A>G (p.Gln180Arg) rs1841681941 0.00001
NM_014000.3(VCL):c.689G>A (p.Arg230His) rs749628307 0.00001
NM_016203.4(PRKAG2):c.253C>T (p.Pro85Ser) rs754570613 0.00001
NM_016599.5(MYOZ2):c.712G>A (p.Gly238Arg) rs796785947 0.00001
NM_018055.5(NODAL):c.1021G>A (p.Val341Met) rs751176757 0.00001
NM_020297.4(ABCC9):c.2324C>A (p.Pro775His) rs796559062 0.00001
NM_020529.3(NFKBIA):c.847A>T (p.Ser283Cys) rs989569540 0.00001
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys) rs562700595 0.00001
NM_144573.4(NEXN):c.1364T>C (p.Ile455Thr) rs1338886488 0.00001
NM_000059.4(BRCA2):c.3074AGA[3] (p.Lys1026dup) rs1342774938
NM_000059.4(BRCA2):c.4130A>T (p.Asn1377Ile) rs749624669
NM_000059.4(BRCA2):c.596C>T (p.Ala199Val) rs878853593
NM_000059.4(BRCA2):c.7388A>T (p.Asn2463Ile) rs1593918551
NM_000081.4(LYST):c.8980G>A (p.Glu2994Lys)
NM_000214.3(JAG1):c.611A>G (p.Asp204Gly) rs2122623598
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys) rs104895111
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.149G>A (p.Ser50Asn) rs2142869623
NM_000256.3(MYBPC3):c.1586C>A (p.Thr529Asn) rs397515911
NM_000256.3(MYBPC3):c.3142C>A (p.Arg1048Ser) rs11570113
NM_000256.3(MYBPC3):c.3416T>C (p.Val1139Ala) rs2142850291
NM_000257.4(MYH7):c.1291G>C (p.Val431Leu) rs606231322
NM_000257.4(MYH7):c.1319T>C (p.Val440Ala) rs1244840759
NM_000257.4(MYH7):c.1436A>C (p.Asn479Thr) rs727504236
NM_000257.4(MYH7):c.1823T>C (p.Leu608Ser) rs2138671995
NM_000257.4(MYH7):c.4327G>A (p.Asp1443Asn) rs2138646412
NM_000257.4(MYH7):c.4541A>G (p.Glu1514Gly) rs1351712658
NM_000257.4(MYH7):c.4853T>C (p.Met1618Thr) rs1257400566
NM_000257.4(MYH7):c.5368A>G (p.Ile1790Val) rs2138638553
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys) rs201865159
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln) rs730880822
NM_000258.3(MYL3):c.421G>A (p.Asp141Asn) rs1483805765
NM_000302.4(PLOD1):c.1334T>G (p.Val445Gly) rs922997919
NM_000335.5(SCN5A):c.3370G>T (p.Ala1124Ser) rs796070621
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met) rs199473297
NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly) rs1060499912
NM_000391.4(TPP1):c.1142C>G (p.Ser381Cys) rs1241569976
NM_000487.6(ARSA):c.1079T>C (p.Leu360Pro) rs2082658031
NM_000501.4(ELN):c.1778C>A (p.Ala593Asp) rs1796553212
NM_000569.8(FCGR3A):c.32T>A (p.Leu11Gln) rs371773367
NM_000702.4(ATP1A2):c.1318G>A (p.Val440Met) rs768088341
NM_000719.7(CACNA1C):c.3050A>G (p.His1017Arg) rs2153426949
NM_000719.7(CACNA1C):c.3712A>G (p.Met1238Val) rs2077233710
NM_000719.7(CACNA1C):c.6302G>A (p.Arg2101Lys) rs2153891904
NM_001005242.3(PKP2):c.834G>T (p.Gln278His) rs1956949832
NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys) rs968974699
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.4654GTC[1] (p.Val1553del) rs1362745259
NM_001018005.2(TPM1):c.832C>G (p.Leu278Val) rs730881161
NM_001018005.2(TPM1):c.851+5dup rs2036008903
NM_001035.3(RYR2):c.473G>A (p.Cys158Tyr) rs2149792694
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001079802.2(FKTN):c.22G>T (p.Val8Leu) rs368981218
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val) rs137853322
NM_001103.4(ACTN2):c.1444C>T (p.Arg482Trp) rs199604590
NM_001103.4(ACTN2):c.1741G>A (p.Glu581Lys) rs1398504608
NM_001103.4(ACTN2):c.343G>C (p.Val115Leu) rs397516579
NM_001105206.3(LAMA4):c.1176_1177insT (p.Asp393Ter) rs2114895179
NM_001114753.3(ENG):c.583G>A (p.Glu195Lys) rs1255912441
NM_001134363.3(RBM20):c.1528-1G>C rs534513476
NM_001134363.3(RBM20):c.2761A>T (p.Ile921Phe) rs397516608
NM_001134363.3(RBM20):c.3262C>G (p.Pro1088Ala) rs969716149
NM_001134363.3(RBM20):c.665C>T (p.Ala222Val) rs2135042487
NM_001232.4(CASQ2):c.757C>T (p.Arg253Cys) rs727504510
NM_001267550.2(TTN):c.10433_10443del (p.Asn3478fs) rs2154336089
NM_001267550.2(TTN):c.106793A>C (p.Gln35598Pro) rs953569145
NM_001267550.2(TTN):c.11605G>C (p.Val3869Leu) rs747929496
NM_001267550.2(TTN):c.13003GAA[1] (p.Glu4336del) rs1481572021
NM_001267550.2(TTN):c.23674A>G (p.Ile7892Val) rs2078060561
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del) rs727505315
NM_001267550.2(TTN):c.50317G>A (p.Glu16773Lys) rs879025295
NM_001267550.2(TTN):c.50793C>A (p.Val16931=) rs2056308114
NM_001267550.2(TTN):c.50794A>T (p.Asn16932Tyr) rs2056307677
NM_001267550.2(TTN):c.50923C>A (p.Pro16975Thr) rs2154199573
NM_001267550.2(TTN):c.51379G>T (p.Val17127Phe) rs397517603
NM_001267550.2(TTN):c.55393G>T (p.Ala18465Ser) rs899078606
NM_001267550.2(TTN):c.5780T>G (p.Leu1927Arg) rs2154345987
NM_001267550.2(TTN):c.6292C>T (p.Arg2098Trp) rs763722868
NM_001267550.2(TTN):c.7907A>T (p.Glu2636Val) rs1207371966
NM_001267550.2(TTN):c.83062C>T (p.Arg27688Cys) rs757441189
NM_001267550.2(TTN):c.94032_94040dup (p.Val31346_Glu31347insAspIleVal) rs1697753486
NM_001267550.2(TTN):c.95950A>G (p.Arg31984Gly) rs2154144165
NM_001267550.2(TTN):c.97604T>C (p.Ile32535Thr) rs2154141649
NM_001267550.2(TTN):c.98713G>A (p.Glu32905Lys) rs763344306
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503
NM_001276345.2(TNNT2):c.443A>G (p.Gln148Arg) rs730880232
NM_001289808.2(CRYAB):c.167G>C (p.Arg56Pro) rs781986102
NM_001289808.2(CRYAB):c.201+17C>G rs782366958
NM_001365536.1(SCN9A):c.2467C>G (p.Leu823Val) rs1029813878
NM_001370259.2(MEN1):c.1630C>T (p.Pro544Ser) rs1387157979
NM_001375808.2(LPIN2):c.206T>C (p.Ile69Thr) rs1555677681
NM_001379081.2(FREM1):c.2459C>T (p.Pro820Leu) rs868815512
NM_001458.5(FLNC):c.248_265dup (p.Pro88_Arg89insHisArgLysPheHisPro) rs2128932214
NM_001458.5(FLNC):c.3259A>C (p.Thr1087Pro) rs1272329612
NM_001458.5(FLNC):c.4418G>A (p.Gly1473Asp) rs1174959724
NM_001458.5(FLNC):c.4925C>G (p.Thr1642Arg) rs756074974
NM_001458.5(FLNC):c.6716G>A (p.Arg2239Gln) rs1350832784
NM_001458.5(FLNC):c.6716G>T (p.Arg2239Leu) rs1350832784
NM_001458.5(FLNC):c.7334A>G (p.His2445Arg) rs2128940144
NM_001458.5(FLNC):c.7372G>A (p.Glu2458Lys) rs2128940160
NM_001927.4(DES):c.725T>A (p.Val242Glu) rs794728984
NM_001927.4(DES):c.802C>G (p.Pro268Ala) rs1434613160
NM_001999.4(FBN2):c.1826C>G (p.Thr609Ser) rs2126958666
NM_002230.4(JUP):c.633C>A (p.Asn211Lys) rs372145644
NM_002230.4(JUP):c.809T>G (p.Leu270Arg) rs794729040
NM_002471.4(MYH6):c.1007C>G (p.Ala336Gly) rs138572790
NM_002471.4(MYH6):c.1100A>T (p.Gln367Leu) rs2138615086
NM_002471.4(MYH6):c.2093A>G (p.Asn698Ser) rs2138604595
NM_002471.4(MYH6):c.2292+1G>T rs771569935
NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys) rs201989347
NM_002471.4(MYH6):c.4955T>C (p.Leu1652Pro) rs2138584834
NM_002474.3(MYH11):c.232A>G (p.Lys78Glu) rs2151381334
NM_003193.5(TBCE):c.569A>C (p.Lys190Thr) rs150592371
NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser) rs1555360033
NM_003413.4(ZIC3):c.667AACATG[3] (p.223NM[3]) rs779610526
NM_003476.5(CSRP3):c.286_287del (p.Pro96fs) rs960577385
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003978.5(PSTPIP1):c.821C>T (p.Thr274Met) rs2076440871
NM_004415.4(DSP):c.3146C>G (p.Ser1049Trp) rs751361395
NM_004415.4(DSP):c.6073C>T (p.Pro2025Ser) rs1759514545
NM_004415.4(DSP):c.8230A>G (p.Arg2744Gly) rs1198357388
NM_004415.4(DSP):c.8531G>T (p.Gly2844Val) rs374137476
NM_005159.5(ACTC1):c.967G>T (p.Ala323Ser) rs771011464
NM_005585.5(SMAD6):c.1318G>A (p.Asp440Asn) rs924329960
NM_005902.4(SMAD3):c.304G>A (p.Glu102Lys) rs1962537574
NM_006929.5(SKIC2):c.116C>T (p.Pro39Leu) rs2151802046
NM_007294.4(BRCA1):c.3467A>C (p.Asp1156Ala) rs2154312065
NM_007294.4(BRCA1):c.3888TTC[1] (p.Ser1298del) rs80358339
NM_012134.3(LMOD1):c.1769T>C (p.Leu590Pro) rs1681246206
NM_012186.3(FOXE3):c.562TACGCGCCC[3] (p.188YAP[3]) rs768610152
NM_014000.3(VCL):c.2276G>A (p.Arg759Gln) rs1425397914
NM_014000.3(VCL):c.379G>A (p.Asp127Asn) rs1554816666
NM_014391.3(ANKRD1):c.222dup (p.Leu75fs) rs776659587
NM_014846.4(WASHC5):c.2149C>T (p.Arg717Cys) rs1354434507
NM_014846.4(WASHC5):c.694G>C (p.Asp232His) rs1817136668
NM_016203.4(PRKAG2):c.504A>C (p.Gln168His) rs2151477345
NM_020297.4(ABCC9):c.2474C>T (p.Ala825Val) rs964127282
NM_020433.5(JPH2):c.1213G>A (p.Ala405Thr) rs557878787
NM_020774.4(MIB1):c.1322A>C (p.Asn441Thr) rs730880135
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) rs565935886
NM_032578.4(MYPN):c.2302C>T (p.Pro768Ser) rs772356751
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu) rs200067011
NM_144573.4(NEXN):c.1733G>T (p.Arg578Ile) rs374878979
NM_145046.5(CALR3):c.1068_1069del (p.Glu357fs) rs2122122870
NM_174934.4(SCN4B):c.208T>C (p.Tyr70His) rs1029021066
NM_198253.3(TERT):c.395G>A (p.Arg132Gln) rs2126690021

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