ClinVar Miner

List of variants in gene DPH1, LOC130059901 studied for Inborn genetic diseases

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001383.6(DPH1):c.1141T>C (p.Tyr381His) rs536213032 0.00001
NM_001383.6(DPH1):c.1167G>C (p.Trp389Cys)
NM_001383.6(DPH1):c.1195C>T (p.Pro399Ser)
NM_001383.6(DPH1):c.1196C>T (p.Pro399Leu) rs2067525230
NM_001383.6(DPH1):c.1198del (p.His400fs) rs1488970291

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