ClinVar Miner

List of variants in gene DSP studied for Familial isolated arrhythmogenic right ventricular dysplasia

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter) rs1561703331 0.00001
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.3165del (p.Asn1055fs) rs2113691213
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter) rs886039178
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.8193C>G (p.Tyr2731Ter) rs2113704410

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