ClinVar Miner

List of variants reported as likely benign for SRD5A3-CDG by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_024592.5(SRD5A3):c.110C>T (p.Pro37Leu) rs199975696
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=) rs376944136
NM_024592.5(SRD5A3):c.51G>T (p.Ala17=) rs201123766
NM_024592.5(SRD5A3):c.566A>C (p.Tyr189Ser) rs35496669
NM_024592.5(SRD5A3):c.672C>T (p.Leu224=) rs144834899

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