ClinVar Miner

List of variants in gene HSD3B2 reported as pathogenic for adrenogenital syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
HSD3B2, 1-BP DEL, 867G
HSD3B2, 1-BP INS
NM_001166120.1(HSD3B2):c.1022C>T (p.Pro341Leu) rs121964897
NM_001166120.1(HSD3B2):c.1119A>C (p.Ter373Cys) rs80358218
NM_001166120.1(HSD3B2):c.29C>A (p.Ala10Glu) rs28934880
NM_001166120.1(HSD3B2):c.424G>A (p.Glu142Lys) rs80358219
NM_001166120.1(HSD3B2):c.512G>A (p.Trp171Ter) rs80358216
NM_001166120.1(HSD3B2):c.664C>A (p.Pro222Thr) rs80358220
NM_001166120.1(HSD3B2):c.742_743delGTinsAA (p.Val248Asn) rs121964896
NM_001166120.1(HSD3B2):c.776C>T (p.Thr259Met) rs80358221

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