ClinVar Miner

List of variants reported as benign for 46,XX disorder of sex development by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000103.4(CYP19A1):c.*1601G>A rs12148604
NM_000103.4(CYP19A1):c.*161T>G rs4646
NM_000103.4(CYP19A1):c.*1888A>G rs4275794
NM_000103.4(CYP19A1):c.*19C>T rs10046
NM_000103.4(CYP19A1):c.*2170G>A rs2255192
NM_000103.4(CYP19A1):c.*2258_*2259insA rs3217422
NM_000103.4(CYP19A1):c.*2467G>A rs934634
NM_000103.4(CYP19A1):c.240A>G (p.Val80=) rs700518
NM_000414.4(HSD17B4):c.*250dup rs34381335
NM_000414.4(HSD17B4):c.-75C>G rs26180
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) rs11539471
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) rs11205
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) rs25640

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