ClinVar Miner

List of variants reported as pathogenic for developmental defect during embryogenesis by Clinical Biochemistry Laboratory, Health Services Laboratory

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser) rs121434247 0.00015
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250 0.00015
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747 0.00009
NM_000197.2(HSD17B3):c.607-1G>A rs730880305 0.00001
NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro) rs764433016 0.00001
NM_000348.4(SRD5A2):c.620C>A (p.Ala207Asp) rs767564684 0.00001
NM_000044.6(AR):c.2710G>T (p.Val904Leu) rs2147540656
NM_000197.2(HSD17B3):c.201+1G>A
NM_000197.2(HSD17B3):c.202-1G>A rs1378603446
NM_000197.2(HSD17B3):c.203T>G (p.Leu68Arg)
NM_000197.2(HSD17B3):c.673G>A (p.Val225Met)
NM_000197.2(HSD17B3):c.729_735del (p.Ile244fs)
NM_000197.2(HSD17B3):c.803G>A (p.Cys268Tyr) rs119481080
NM_000348.4(SRD5A2):c.311G>A (p.Gly104Glu)
NM_000348.4(SRD5A2):c.383A>G (p.Tyr128Cys)
NM_000348.4(SRD5A2):c.574G>A (p.Ala192Thr)
NM_000348.4(SRD5A2):c.587G>A (p.Gly196Asp)
NM_000348.4(SRD5A2):c.698+1G>T
NM_000348.4(SRD5A2):c.699-1G>A
NM_000348.4(SRD5A2):c.743C>A (p.Ala248Asp)
NM_000348.4(SRD5A2):c.80_87del (p.Val27fs)

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