ClinVar Miner

List of variants studied for 46,XY disorder of sex development due to a cholesterol synthesis defect by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001360.2(DHCR7):c.438T>C (p.Asn146=) rs949177
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.2(DHCR7):c.964-1G>C rs138659167

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