ClinVar Miner

List of variants reported as benign for 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000197.2(HSD17B3):c.-39A>G rs2066474 0.19625
NM_000197.2(HSD17B3):c.865G>A (p.Gly289Ser) rs2066479 0.07555
NM_000197.2(HSD17B3):c.91G>A (p.Val31Ile) rs2066480 0.01154
NM_000197.2(HSD17B3):c.-10G>C rs2066484 0.01032
NM_000197.2(HSD17B3):c.-29A>G rs2066476 0.01018
NM_000197.2(HSD17B3):c.804C>T (p.Cys268=) rs8190555 0.00740
NM_000197.2(HSD17B3):c.195G>A (p.Ser65=) rs2066478 0.00665

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