List of variants in gene DSP reported as likely pathogenic for Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter)	rs1561703331	0.00001
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter)	rs1464253797	0.00001
NM_004415.4(DSP):c.170+1G>A	rs1309931610
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs)	rs1561698362
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs)	rs1554108410
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs)	rs1561702640
NM_004415.4(DSP):c.928dup (p.Glu310fs)	rs794728137

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