ClinVar Miner

List of variants in gene DSP reported as pathogenic for Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8

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Total variants: 51
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HGVS dbSNP
NC_000006.11:g.(?_7570650)_(7586131_?)del
NM_004415.4(DSP):c.1162del (p.Thr388fs) rs1554106742
NM_004415.4(DSP):c.1182del (p.Leu395fs) rs1554106743
NM_004415.4(DSP):c.1282dup (p.Ile428fs) rs1561687796
NM_004415.4(DSP):c.1411_1412insT (p.Gln471fs)
NM_004415.4(DSP):c.1582C>T (p.Gln528Ter) rs1267435790
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)
NM_004415.4(DSP):c.1831C>T (p.Gln611Ter)
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter) rs876657638
NM_004415.4(DSP):c.2323C>T (p.Gln775Ter)
NM_004415.4(DSP):c.2497C>T (p.Gln833Ter) rs1561693779
NM_004415.4(DSP):c.268C>T (p.Gln90Ter) rs886039343
NM_004415.4(DSP):c.2725C>T (p.Gln909Ter) rs1561694696
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.3126_3127delinsT (p.Arg1042fs) rs1561696970
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter) rs1554108050
NM_004415.4(DSP):c.3290_3291dup (p.Asp1098Ter) rs1561697181
NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter) rs1561680649
NM_004415.4(DSP):c.330_334del (p.Phe111fs)
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) rs1554108152
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) rs778178956
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter) rs140474226
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.4357C>T (p.Gln1453Ter) rs1561698750
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter) rs1236464864
NM_004415.4(DSP):c.4423del (p.Thr1475fs)
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) rs397516940
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) rs1554108431
NM_004415.4(DSP):c.5210del (p.Gly1737fs)
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) rs794728124
NM_004415.4(DSP):c.523C>T (p.Gln175Ter)
NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter) rs1554108477
NM_004415.4(DSP):c.5321_5322AG[3] (p.Glu1776fs) rs1394836623
NM_004415.4(DSP):c.5460dup (p.Val1821fs) rs1554108609
NM_004415.4(DSP):c.5550_5557delinsGTG (p.Gln1851fs) rs1554108621
NM_004415.4(DSP):c.5665_5666GA[4] (p.Lys1892fs) rs1487814687
NM_004415.4(DSP):c.5671_*1792delinsAGAGAAGAACAGTCTT
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.5771_5772CA[1] (p.Gln1925fs) rs1561701401
NM_004415.4(DSP):c.6466dup (p.Arg2156fs) rs1554108859
NM_004415.4(DSP):c.6510_6511insCT (p.Asn2171fs) rs794728148
NM_004415.4(DSP):c.6581_6582CA[1] (p.His2195fs) rs1561702771
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_004415.4(DSP):c.939+1G>A rs727504443

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