ClinVar Miner

List of variants in gene EPCAM reported as uncertain significance for 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NC_000002.11:g.(?_47596635)_(47596730_?)dup
NM_002354.2(EPCAM):c.203T>G (p.Val68Gly) rs863224708
NM_002354.2(EPCAM):c.232C>G (p.Leu78Val) rs587780763
NM_002354.2(EPCAM):c.577A>G (p.Ile193Val) rs200676965

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