ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Ambry Genetics and "likely pathogenic" 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: 416
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_007272.3(CTRC):c.640-12G>A rs183053579 0.00194
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) rs120074114 0.00071
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter) rs1004428835 0.00037
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn) rs201759207 0.00029
NM_000237.3(LPL):c.998G>A (p.Arg333His) rs144466625 0.00024
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384 0.00019
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr) rs142773283 0.00019
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) rs121913010 0.00016
NM_006073.4(TRDN):c.1282C>T (p.Arg428Ter) rs202219343 0.00016
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln) rs367709427 0.00014
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys) rs752200396 0.00011
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln) rs191009474 0.00011
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His) rs376968326 0.00011
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) rs368924655 0.00009
NM_022773.4(LMF1):c.295C>T (p.Gln99Ter) rs752473648 0.00009
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632 0.00008
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369 0.00008
NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His) rs184758570 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_000335.5(SCN5A):c.4067C>T (p.Ala1356Val) rs370588133 0.00007
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_000020.3(ACVRL1):c.682G>A (p.Val228Ile) rs138048445 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000257.4(MYH7):c.3814G>A (p.Asp1272Asn) rs730880906 0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) rs138592977 0.00006
NM_000169.3(GLA):c.619T>C (p.Tyr207His) rs372416832 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_001927.4(DES):c.1371+1G>A rs748323823 0.00005
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala) rs374860681 0.00005
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His) rs199473482 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803 0.00004
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn) rs397516106 0.00004
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter) rs794728940 0.00004
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) rs201958172 0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg) rs148519623 0.00004
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys) rs766910280 0.00004
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_002907.4(RECQL):c.796C>T (p.Gln266Ter) rs572725483 0.00004
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln) rs781015830 0.00004
NM_020778.5(ALPK3):c.4499+2dup rs753084997 0.00004
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys) rs185392267 0.00004
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser) rs374211312 0.00004
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys) rs1402178514 0.00003
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) rs747321794 0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_001374736.1(DST):c.16609-1G>T rs766657292 0.00003
NM_002667.5(PLN):c.26G>A (p.Arg9His) rs754782171 0.00003
NM_002834.5(PTPN11):c.794G>T (p.Arg265Leu) rs376607329 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_020778.5(ALPK3):c.1828G>A (p.Val610Met) rs374911318 0.00003
NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser) rs730881878 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys) rs755009196 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000256.3(MYBPC3):c.2534G>A (p.Arg845His) rs730880568 0.00002
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097 0.00002
NM_000257.4(MYH7):c.706G>A (p.Val236Ile) rs397516261 0.00002
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000335.5(SCN5A):c.655C>T (p.Arg219Cys) rs762012668 0.00002
NM_000432.4(MYL2):c.163G>T (p.Ala55Ser) rs727504425 0.00002
NM_001134363.3(RBM20):c.1338-1G>T rs1265727354 0.00002
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys) rs750421791 0.00002
NM_001267550.2(TTN):c.52406-2A>C rs753798236 0.00002
NM_001267550.2(TTN):c.7057+2dup rs765019023 0.00002
NM_001364171.2(ODAD1):c.707C>T (p.Ala236Val) rs374990723 0.00002
NM_001927.4(DES):c.1288+1G>A rs112224037 0.00002
NM_058216.3(RAD51C):c.571+5G>A rs145779113 0.00002
NM_170707.4(LMNA):c.658C>T (p.Arg220Cys) rs370134870 0.00002
NM_000020.3(ACVRL1):c.139C>T (p.Arg47Trp) rs768072967 0.00001
NM_000051.4(ATM):c.2467-2A>C rs1555082050 0.00001
NM_000051.4(ATM):c.7629+2T>C rs786203059 0.00001
NM_000059.4(BRCA2):c.632-3C>G rs568027879 0.00001
NM_000124.4(ERCC6):c.1398-2A>G rs1317145066 0.00001
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) rs794728291 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1142G>A (p.Cys381Tyr) rs368507376 0.00001
NM_000218.3(KCNQ1):c.575G>A (p.Arg192His) rs199472698 0.00001
NM_000218.3(KCNQ1):c.698T>C (p.Leu233Pro) rs780236727 0.00001
NM_000218.3(KCNQ1):c.827C>T (p.Ser276Phe) rs794728514 0.00001
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441 0.00001
NM_000249.4(MLH1):c.492A>C (p.Lys164Asn) rs765014361 0.00001
NM_000256.3(MYBPC3):c.1457+5G>A rs727503202 0.00001
NM_000256.3(MYBPC3):c.1685C>T (p.Ala562Val) rs730880694 0.00001
NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile) rs730880551 0.00001
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala) rs397516119 0.00001
NM_000257.4(MYH7):c.1700G>A (p.Arg567His) rs377491278 0.00001
NM_000257.4(MYH7):c.2573G>A (p.Arg858His) rs2856897 0.00001
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) rs730880761 0.00001
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218 0.00001
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys) rs730880821 0.00001
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000335.5(SCN5A):c.5375T>A (p.Met1792Lys) rs794728897 0.00001
NM_000335.5(SCN5A):c.680T>C (p.Leu227Pro) rs760011764 0.00001
NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp) rs730881071 0.00001
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys) rs745721296 0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser) rs397508187 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe) rs186089140 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=) rs397508419 0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly) rs397508436 0.00001
NM_000492.4(CFTR):c.2846A>T (p.His949Leu) rs397508444 0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro) rs397508674 0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr) rs397508804 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1186+5G>C rs879254821 0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_000546.6(TP53):c.328C>T (p.Arg110Cys) rs587781371 0.00001
NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn) rs773528195 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr) rs397516382 0.00001
NM_001018005.2(TPM1):c.82G>C (p.Asp28His) rs397516391 0.00001
NM_001035.3(RYR2):c.12283G>A (p.Gly4095Ser) rs753850982 0.00001
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) rs764698152 0.00001
NM_001035.3(RYR2):c.14869T>A (p.Cys4957Ser) rs758500988 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter) rs1393804220 0.00001
NM_001267550.2(TTN):c.10303+2T>C rs371596417 0.00001
NM_001267550.2(TTN):c.14093-1G>A rs869312099 0.00001
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln) rs730881101 0.00001
NM_001276345.2(TNNT2):c.601-1G>A rs483352835 0.00001
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter) rs758112779 0.00001
NM_001378969.1(KCND3):c.1645C>T (p.Arg549Cys) rs1294150954 0.00001
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met) rs1420394583 0.00001
NM_001927.4(DES):c.1063C>T (p.Arg355Ter) rs762808690 0.00001
NM_002474.3(MYH11):c.2098C>T (p.Arg700Trp) rs886038932 0.00001
NM_002880.4(RAF1):c.791A>T (p.His264Leu) rs1057517887 0.00001
NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val) rs121434500 0.00001
NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp) rs730881061 0.00001
NM_004415.4(DSP):c.2985G>A (p.Glu995=) rs768858918 0.00001
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His) rs755827803 0.00001
NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys) rs758468167 0.00001
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057 0.00001
NM_020433.5(JPH2):c.421T>C (p.Tyr141His) rs387906897 0.00001
NM_020778.5(ALPK3):c.182+1G>A rs1963449829 0.00001
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser) rs747785577 0.00001
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp) rs730881932 0.00001
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro) rs267607564 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys) rs62636506 0.00001
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) rs786205448 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.659G>A (p.Arg220His) rs780066296 0.00001
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp) rs879253898 0.00001
NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr) rs764603059 0.00001
NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del) rs1940959480
NM_000020.3(ACVRL1):c.154A>G (p.Thr52Ala) rs1131691346
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.2377-2A>G rs1057516553
NM_000051.4(ATM):c.4910-2A>T rs1555103156
NM_000051.4(ATM):c.7013T>C (p.Leu2338Pro) rs1555120997
NM_000051.4(ATM):c.7788+3A>G rs869312788
NM_000051.4(ATM):c.7928-2A>G rs864622610
NM_000051.4(ATM):c.8150A>G (p.Lys2717Arg) rs1555127353
NM_000051.4(ATM):c.9145_9146del (p.Phe3049fs) rs1555152058
NM_000059.4(BRCA2):c.425+2T>C rs876661045
NM_000059.4(BRCA2):c.681+1G>A rs398122565
NM_000059.4(BRCA2):c.6849del (p.Ser2284fs) rs761744738
NM_000059.4(BRCA2):c.6866T>G (p.Leu2289Ter) rs1555285146
NM_000089.4(COL1A2):c.115G>A (p.Gly39Arg)
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg) rs193922165
NM_000090.4(COL3A1):c.1232G>A (p.Gly411Glu) rs886038816
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.2861G>A (p.Arg954His) rs112911555
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val) rs1566908083
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000179.3(MSH6):c.3163G>C (p.Ala1055Pro) rs587779254
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs) rs1553333753
NM_000214.3(JAG1):c.62T>C (p.Leu21Pro) rs876660977
NM_000218.3(KCNQ1):c.797T>G (p.Leu266Arg) rs199473460
NM_000218.3(KCNQ1):c.850_852del (p.Glu284del) rs1064796353
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) rs120074186
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=) rs794728384
NM_000238.4(KCNH2):c.2390C>A (p.Ala797Asp) rs794728389
NM_000238.4(KCNH2):c.2417G>A (p.Gly806Glu) rs199473000
NM_000238.4(KCNH2):c.296A>G (p.Tyr99Cys) rs199472854
NM_000238.4(KCNH2):c.387C>G (p.Phe129Leu) rs764831888
NM_000238.4(KCNH2):c.916+1G>A
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_000249.4(MLH1):c.1897-2A>G rs267607871
NM_000251.2(MSH2):c.-82G>C rs866991159
NM_000251.3(MSH2):c.1661+5G>T rs267607972
NM_000251.3(MSH2):c.19G>T (p.Glu7Ter) rs375561490
NM_000251.3(MSH2):c.2005G>T (p.Gly669Cys) rs63751668
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter) rs587779976
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1927+1G>A rs2142859053
NM_000256.3(MYBPC3):c.3584G>T (p.Gly1195Val) rs730880595
NM_000256.3(MYBPC3):c.3752A>G (p.Tyr1251Cys) rs730880602
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser) rs397516053
NM_000256.3(MYBPC3):c.905+1G>T rs767698543
NM_000257.4(MYH7):c.1166G>A (p.Gly389Glu) rs727503268
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1479G>A (p.Met493Ile) rs730880876
NM_000257.4(MYH7):c.1805A>G (p.Asn602Ser) rs730880880
NM_000257.4(MYH7):c.2063T>C (p.Leu688Pro) rs730880731
NM_000257.4(MYH7):c.2149G>A (p.Asp717Asn) rs1057524857
NM_000257.4(MYH7):c.2284A>G (p.Lys762Glu)
NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn) rs730880895
NM_000257.4(MYH7):c.2347C>T (p.Arg783Cys) rs727503258
NM_000257.4(MYH7):c.2473A>C (p.Lys825Gln) rs730880743
NM_000257.4(MYH7):c.2497T>C (p.Tyr833His) rs730880746
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val) rs727503254
NM_000257.4(MYH7):c.2783A>T (p.Asp928Val) rs727504558
NM_000257.4(MYH7):c.3020T>C (p.Leu1007Pro) rs730880763
NM_000257.4(MYH7):c.3621C>G (p.Ile1207Met) rs529700838
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) rs794727410
NM_000257.4(MYH7):c.4126G>A (p.Glu1376Lys) rs730880791
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.4828G>C (p.Glu1610Gln) rs730880810
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys) rs730880816
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln) rs730880822
NM_000257.4(MYH7):c.686C>T (p.Ala229Val) rs876657888
NM_000257.4(MYH7):c.689T>C (p.Phe230Ser) rs886038844
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000335.5(SCN5A):c.4335G>A (p.Met1445Ile) rs794728936
NM_000335.5(SCN5A):c.4434+5G>A rs1057520531
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met) rs199473297
NM_000335.5(SCN5A):c.5543A>G (p.His1848Arg) rs794728898
NM_000335.5(SCN5A):c.5620_5622dup (p.Met1874dup) rs1474459822
NM_000363.5(TNNI3):c.114A>T (p.Lys38Asn) rs730881066
NM_000363.5(TNNI3):c.131C>G (p.Ser44Trp) rs730881085
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000363.5(TNNI3):c.502G>A (p.Asp168Asn) rs1085308019
NM_000384.3(APOB):c.12529C>T (p.Arg4177Ter)
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs) rs760832994
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
NM_000432.4(MYL2):c.188del (p.Asn63fs) rs1177936172
NM_000432.4(MYL2):c.3+1G>T rs730880948
NM_000465.4(BARD1):c.2002-1G>A rs762601855
NM_000465.4(BARD1):c.2002-2A>T rs876658260
NM_000465.4(BARD1):c.211T>A (p.Cys71Ser) rs1060501308
NM_000465.4(BARD1):c.247T>C (p.Cys83Arg) rs1559437198
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro) rs1562892293
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser) rs79282516
NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu)
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp) rs397508432
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu) rs193922516
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn) rs397508522
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.4(CFTR):c.3717+5G>A rs193922520
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg) rs753173837
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe) rs1205480064
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del) rs879255201
NM_000527.5(LDLR):c.2547+5G>A rs879255226
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) rs786205782
NM_000719.7(CACNA1C):c.2284C>T (p.Leu762Phe) rs2061710859
NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile) rs193922615
NM_001005242.3(PKP2):c.1170+4_1170+7del rs397516988
NM_001005242.3(PKP2):c.1415A>G (p.Lys472Arg) rs749926313
NM_001005242.3(PKP2):c.2357+5G>A rs1555141020
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) rs199476306
NM_001018005.2(TPM1):c.592A>G (p.Lys198Glu) rs730881140
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.1250G>T (p.Arg417Leu) rs751428303
NM_001035.3(RYR2):c.12526G>A (p.Val4176Met) rs794728828
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp) rs794728799
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp) rs886038888
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro) rs1131691132
NM_001042492.3(NF1):c.586G>A (p.Glu196Lys) rs876659079
NM_001042492.3(NF1):c.99A>G (p.Lys33=) rs786203280
NM_001048174.2(MUTYH):c.1417C>T (p.Gln473Ter) rs932830392
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) rs267608388
NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr) rs1131691931
NM_001114753.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001148.6(ANK2):c.11859+2T>G
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) rs1057519630
NM_001267550.2(TTN):c.40723+1del rs876658058
NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter) rs1554008881
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.48638+5G>T rs397517594
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.53881+5G>T rs753527304
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.658C>T (p.Arg220Ter) rs748313513
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser) rs397516451
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys) rs397516465
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val) rs369181536
NM_001277115.2(DNAH11):c.4095+2C>A rs532007878
NM_001277115.2(DNAH11):c.495+1G>T
NM_001283009.2(RTEL1):c.1266+3_1266+80del rs2090574236
NM_001458.5(FLNC):c.3193-2A>G rs749889670
NM_001458.5(FLNC):c.4951+2T>C rs1585164316
NM_001927.4(DES):c.985C>T (p.Gln329Ter) rs759320891
NM_001943.5(DSG2):c.875G>T (p.Arg292Leu) rs185821167
NM_002317.7(LOX):c.1044T>A (p.Ser348Arg) rs1561417568
NM_002471.4(MYH6):c.5050C>T (p.Gln1684Ter) rs1849911056
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002769.5(PRSS1):c.389C>T (p.Thr130Ile) rs193922655
NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg) rs193922656
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys) rs397507511
NM_002878.4(RAD51D):c.263+1G>A rs1555570242
NM_002878.4(RAD51D):c.264-1G>A rs2091622013
NM_002878.4(RAD51D):c.480+1G>A rs1597862471
NM_002880.4(RAF1):c.1850A>T (p.Asn617Ile)
NM_002880.4(RAF1):c.1880G>C (p.Arg627Pro)
NM_002907.4(RECQL):c.493_497del (p.Ser164_Ser165insTer) rs1565570957
NM_003242.6(TGFBR2):c.1275G>A (p.Met425Ile)
NM_003242.6(TGFBR2):c.1525-1G>A rs1699706945
NM_003673.4(TCAP):c.472C>T (p.Arg158Cys) rs397516863
NM_004370.6(COL12A1):c.6067+1G>A rs1766265062
NM_004415.4(DSP):c.8208dup (p.Val2737fs) rs1581825892
NM_004463.3(FGD1):c.1556G>A (p.Arg519His) rs398124157
NM_004656.4(BAP1):c.1891-1G>A rs1705011794
NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_005477.3(HCN4):c.1590G>C (p.Lys530Asn) rs1555475961
NM_005633.4(SOS1):c.323A>G (p.Glu108Gly) rs886041923
NM_005732.4(RAD50):c.3753-5T>A rs1581024884
NM_005732.4(RAD50):c.3763del (p.Ser1255fs) rs760621534
NM_005732.4(RAD50):c.3799dup (p.Ile1267fs) rs1554101324
NM_005732.4(RAD50):c.3806_3807del (p.His1269fs) rs1085307088
NM_005902.4(SMAD3):c.346AAG[1] (p.Lys117del) rs2140294164
NM_005902.4(SMAD3):c.371C>T (p.Pro124Leu) rs886039050
NM_005902.4(SMAD3):c.533-1G>A rs1350129614
NM_005902.4(SMAD3):c.607+1G>T rs1060500771
NM_006073.4(TRDN):c.1166-1G>A rs1298986609
NM_006073.4(TRDN):c.1794del (p.Lys598fs) rs1412913007
NM_006073.4(TRDN):c.1900_1903del (p.Glu634fs) rs750469686
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_007078.3(LDB3):c.1609del (p.Gln537fs) rs727503129
NM_007294.4(BRCA1):c.4484+5G>T rs886040910
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr) rs80357078
NM_007294.4(BRCA1):c.5425G>T (p.Val1809Phe) rs28897698
NM_015450.3(POT1):c.1781_1782del (p.Gly594fs) rs1562972380
NM_016203.4(PRKAG2):c.1646A>C (p.Asp549Ala) rs730880982
NM_020433.5(JPH2):c.1213G>T (p.Ala405Ser) rs557878787
NM_020433.5(JPH2):c.424G>T (p.Gly142Ter) rs765874503
NM_020778.5(ALPK3):c.135_143+12del
NM_020778.5(ALPK3):c.3965+2T>C
NM_022773.4(LMF1):c.383T>A (p.Leu128Ter) rs2072617381
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) rs794728075
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs) rs794728077
NM_032043.3(BRIP1):c.1340+5G>C rs869312791
NM_032043.3(BRIP1):c.3125_3128dup (p.Ser1043fs) rs2061318885
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs) rs756853672
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033337.3(CAV3):c.57C>A (p.Cys19Ter) rs1182984115
NM_058195.4(CDKN2A):c.58del (p.Arg19_Val20insTer) rs1563902931
NM_144573.4(NEXN):c.1909_1912del (p.Tyr637fs) rs775629965
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu) rs58789393
NM_201596.3(CACNB2):c.1311C>A (p.Phe437Leu) rs560020203

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