List of variants reported as pathogenic for 3 beta-Hydroxysteroid dehydrogenase deficiency by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000198.4(HSD3B2):c.1119A>C (p.Ter373Cys)	rs80358218	0.00003
NM_000198.4(HSD3B2):c.867del (p.Met290fs)	rs767167623	0.00002
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu)	rs28934880	0.00001
NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys)	rs80358219	0.00001
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met)	rs80358221	0.00001
NM_000198.4(HSD3B2):c.1022C>T (p.Pro341Leu)	rs121964897
NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter)	rs80358216
NM_000198.4(HSD3B2):c.558dup (p.Thr187fs)	rs770815049
NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr)	rs80358220
NM_000198.4(HSD3B2):c.[742_743delinsAA;745C>T]

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