ClinVar Miner

List of variants reported as benign for 46,XX disorder of sex development

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_000414.3(HSD17B4):c.*250dupA rs34381335
NM_000414.3(HSD17B4):c.-75C>G rs26180
NM_000414.3(HSD17B4):c.1531T>C (p.Trp511Arg) rs11539471
NM_000414.3(HSD17B4):c.1675A>G (p.Ile559Val) rs11205
NM_000414.3(HSD17B4):c.2182A>G (p.Met728Val) rs28943594
NM_000414.3(HSD17B4):c.2199C>T (p.Tyr733=) rs12714
NM_000414.3(HSD17B4):c.317G>A (p.Arg106His) rs25640
NM_000414.3(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589
NM_000500.7(CYP21A2):c.308G>A (p.Arg103Lys) rs6474
NM_000500.7(CYP21A2):c.552C>G (p.Asp184Glu) rs397515531
NM_000500.7(CYP21A2):c.747C>G (p.Leu249=) rs6477
NM_000500.7(CYP21A2):c.806G>C (p.Ser269Thr) rs6472
NM_000500.9(CYP21A2):c.1482C>T (p.Ser494=) rs397515529
NM_000500.9(CYP21A2):c.25_27dup (p.Leu10_Pro11insLeu) rs61338903
NM_031226.2(CYP19A1):c.*1601G>A rs12148604
NM_031226.2(CYP19A1):c.*161T>G rs4646
NM_031226.2(CYP19A1):c.*1888A>G rs4275794
NM_031226.2(CYP19A1):c.*19C>T rs10046
NM_031226.2(CYP19A1):c.*2170G>A rs2255192
NM_031226.2(CYP19A1):c.*2258_*2259insA rs3217422
NM_031226.2(CYP19A1):c.*2467G>A rs934634
NM_031226.2(CYP19A1):c.240A>G (p.Val80=) rs700518

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