ClinVar Miner

List of variants in gene combination CYP19A1, MIR4713HG, PIRC66 reported as pathogenic for 46,XX disorder of sex development

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln) rs80051519
NM_000103.4(CYP19A1):c.1123C>T (p.Arg375Cys) rs121434536
NM_000103.4(CYP19A1):c.1224del (p.Lys409fs) rs786205108
NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys) rs121434534
NM_000103.4(CYP19A1):c.1310G>A (p.Cys437Tyr) rs78310315
NM_000103.4(CYP19A1):c.296+1G>A rs786205109
NM_000103.4(CYP19A1):c.628G>A (p.Glu210Lys) rs121434538
NM_000103.4(CYP19A1):c.629-3C>A rs786205110
NM_000103.4(CYP19A1):c.743+2T>C rs786205107

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