ClinVar Miner

List of variants reported as likely pathogenic for Pseudohermaphroditism by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000197.2(HSD17B3):c.383T>C (p.Leu128Ser)	rs767765046
NM_000197.2(HSD17B3):c.414_416del (p.Leu139del)	rs1554694678
NM_000197.2(HSD17B3):c.578C>A (p.Pro193His)	rs773720185

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