ClinVar Miner

List of variants reported as uncertain significance for arrhythmogenic right ventricular cardiomyopathy by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (37):
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ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00130
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_001005242.3(PKP2):c.1379-2109G>A rs139159464 0.00050
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys) rs113967308 0.00034
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_004415.4(DSP):c.1534A>G (p.Ile512Val) rs202025438 0.00014
NM_004415.4(DSP):c.2134G>A (p.Val712Met) rs397516922 0.00012
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115 0.00010
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser) rs373665895 0.00009
NM_004415.4(DSP):c.107G>C (p.Gly36Ala) rs778506459 0.00008
NM_002230.4(JUP):c.1219G>A (p.Val407Ile) rs370913228 0.00004
NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly) rs374306538 0.00003
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys) rs782354654 0.00003
NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu) rs794728122 0.00003
NM_001035.3(RYR2):c.3877C>G (p.Gln1293Glu) rs962100875 0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122 0.00002
NM_024422.6(DSC2):c.658G>A (p.Gly220Arg) rs750961818 0.00002
NM_001035.3(RYR2):c.3931G>A (p.Ala1311Thr) rs368635274 0.00001
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln) rs727504850 0.00001
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro) rs1008407158 0.00001
NM_024422.6(DSC2):c.2328C>G (p.Ile776Met) rs1789054 0.00001
NM_001005242.3(PKP2):c.224-3C>G rs786204387
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del) rs794728838
NM_001035.3(RYR2):c.6817G>A (p.Gly2273Arg) rs1681095773
NM_001035.3(RYR2):c.8238A>G (p.Ile2746Met)
NM_001035.3(RYR2):c.8617C>T (p.Pro2873Ser) rs1031049689
NM_001035.3(RYR2):c.9165T>G (p.Ser3055Arg)
NM_003239.5(TGFB3):c.260G>T (p.Arg87Met) rs1379970824
NM_003239.5(TGFB3):c.352+124C>G
NM_003239.5(TGFB3):c.464G>A (p.Arg155Gln) rs925224125
NM_004415.4(DSP):c.2932A>G (p.Ile978Val) rs780823789
NM_024334.3(TMEM43):c.1042C>G (p.Leu348Val) rs769793469
NM_024422.6(DSC2):c.562G>A (p.Val188Met)

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