ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP
NM_004415.4(DSP):c.1267-2A>G rs1554106830
NM_004415.4(DSP):c.2437-1G>C rs1057517903
NM_004415.4(DSP):c.2793+1G>T rs1554107741
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) rs141026028
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs) rs1561702640
NM_004415.4(DSP):c.7075del (p.Ile2359fs) rs1561703363
NM_004415.4(DSP):c.7240G>T (p.Gly2414Ter) rs1194358112
NM_004415.4(DSP):c.778-2A>G
NM_004415.4(DSP):c.7872_7873CA[1] (p.Thr2625fs) rs1561704475
NM_004415.4(DSP):c.8156del (p.Pro2719fs)

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