ClinVar Miner

List of variants studied for indeterminate sex and/or pseudohermaphroditism by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000197.2(HSD17B3):c.277+4A>T rs201115371 0.00038
NM_000197.2(HSD17B3):c.239G>A (p.Arg80Gln) rs119481075 0.00009
NM_000197.2(HSD17B3):c.845C>T (p.Pro282Leu) rs144809928 0.00005
NM_000197.2(HSD17B3):c.278-1G>C rs149607031 0.00004
NM_000197.2(HSD17B3):c.614T>A (p.Val205Glu) rs372027264 0.00004
NM_000197.2(HSD17B3):c.397G>A (p.Gly133Arg) rs747724352 0.00002
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077 0.00001
NM_000197.2(HSD17B3):c.121_122del (p.Lys41fs) rs1554705693
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.454-1G>A rs1554694264
NM_000197.2(HSD17B3):c.578C>A (p.Pro193His) rs773720185
NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val) rs119481076
NM_000233.4(LHCGR):c.580T>G (p.Phe194Val) rs750481017

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