ClinVar Miner

List of variants in gene DSP reported as uncertain significance for Arrhythmogenic right ventricular cardiomyopathy

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00196
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814 0.00164
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00129
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00116
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00028
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00019
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) rs151115778 0.00009
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00009
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln) rs144106775 0.00007
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00006
NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu) rs535762713 0.00006
NM_004415.4(DSP):c.1469G>A (p.Arg490His) rs747815091 0.00004
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys) rs753033333 0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00003
NM_004415.4(DSP):c.*384C>A rs886061753 0.00002
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976 0.00002
NM_004415.4(DSP):c.265G>A (p.Val89Met) rs766022243 0.00001
NM_004415.4(DSP):c.4857G>C (p.Leu1619=) rs373385083 0.00001
NM_004415.4(DSP):c.5283C>T (p.Asn1761=) rs763355815 0.00001
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu) rs759982048 0.00001
NM_004415.4(DSP):c.6859A>T (p.Thr2287Ser) rs869025396 0.00001
NM_004415.3(DSP):c.-260A>G rs886061738
NM_004415.4(DSP):c.*300C>A rs886061750
NM_004415.4(DSP):c.*305C>A rs886061751
NM_004415.4(DSP):c.*386G>T rs886061754
NM_004415.4(DSP):c.*598G>T rs886061756
NM_004415.4(DSP):c.*681C>A rs886061757
NM_004415.4(DSP):c.-179T>C rs886061741
NM_004415.4(DSP):c.-190G>T rs886061740
NM_004415.4(DSP):c.-228C>A rs886061739
NM_004415.4(DSP):c.-36C>A rs886061743
NM_004415.4(DSP):c.1627A>C (p.Asn543His) rs917602533
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn) rs770105310
NM_004415.4(DSP):c.5291T>C (p.Leu1764Pro) rs767885673
NM_004415.4(DSP):c.6167G>T (p.Gly2056Val) rs2113699658
NM_004415.4(DSP):c.65C>G (p.Ser22Cys) rs2533800831
NM_004415.4(DSP):c.6701A>G (p.Asn2234Ser)
NM_004415.4(DSP):c.7168A>G (p.Ile2390Val)
NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe) rs864309585

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