ClinVar Miner

List of variants studied for Arrhythmogenic right ventricular cardiomyopathy by CSER _CC_NCGL, University of Washington

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00508
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00243
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00243
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00116
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00098
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00098
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) rs142047577 0.00093
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00020
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00019
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu) rs143413607 0.00017
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00013
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00009
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His) rs373600053 0.00006
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001943.5(DSG2):c.2471G>A (p.Arg824His) rs376858770 0.00005
NM_001005242.3(PKP2):c.1379-2022G>A rs111450489 0.00004
NM_024422.6(DSC2):c.490G>A (p.Ala164Thr) rs978623916 0.00004
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala) rs727502985 0.00003
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00003
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys) rs769787593 0.00003
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter) rs145476705 0.00003
NM_001035.3(RYR2):c.3484G>A (p.Val1162Met) rs377030538 0.00002
NM_001035.3(RYR2):c.11968G>A (p.Val3990Ile) rs1210103464 0.00001
NM_001035.3(RYR2):c.12023A>G (p.Asn4008Ser) rs1330847491 0.00001
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu) rs371157868 0.00001
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter) rs140474226

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