ClinVar Miner

List of variants in gene SRD5A3 reported as likely benign for SRD5A3-congenital disorder of glycosylation

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_024592.5(SRD5A3):c.*275G>T rs145768388 0.02343
NM_024592.5(SRD5A3):c.*2984A>G rs73816266 0.00855
NM_024592.5(SRD5A3):c.110C>T (p.Pro37Leu) rs199975696 0.00114
NM_024592.5(SRD5A3):c.566A>C (p.Tyr189Ser) rs35496669 0.00101
NM_024592.5(SRD5A3):c.*621C>T rs548604752 0.00096
NM_024592.5(SRD5A3):c.672C>T (p.Leu224=) rs144834899 0.00070
NM_024592.5(SRD5A3):c.51G>T (p.Ala17=) rs201123766 0.00032
NM_024592.5(SRD5A3):c.698-8C>T rs369712923 0.00019
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=) rs376944136 0.00017
NM_024592.5(SRD5A3):c.365-15C>T rs369112025 0.00013
NM_024592.5(SRD5A3):c.123G>A (p.Pro41=) rs760463357 0.00006
NM_024592.5(SRD5A3):c.423A>G (p.Leu141=) rs143299030 0.00003
NM_024592.5(SRD5A3):c.365-19G>C rs376721684 0.00002
NM_024592.5(SRD5A3):c.444C>T (p.Leu148=) rs201424796 0.00002
NM_024592.5(SRD5A3):c.221+10C>T rs777676728 0.00001
NM_024592.5(SRD5A3):c.480C>T (p.Val160=) rs797046008 0.00001
NM_024592.5(SRD5A3):c.837A>G (p.Leu279=) rs771882471 0.00001
NM_024592.5(SRD5A3):c.114C>T (p.Gly38=)
NM_024592.5(SRD5A3):c.144C>T (p.Asp48=)
NM_024592.5(SRD5A3):c.171T>C (p.Cys57=)
NM_024592.5(SRD5A3):c.221+13C>T
NM_024592.5(SRD5A3):c.221+7G>A
NM_024592.5(SRD5A3):c.222-19G>C
NM_024592.5(SRD5A3):c.222-20C>T
NM_024592.5(SRD5A3):c.243C>T (p.Ile81=)
NM_024592.5(SRD5A3):c.345C>T (p.Leu115=)
NM_024592.5(SRD5A3):c.351G>A (p.Ala117=)
NM_024592.5(SRD5A3):c.364+18T>A
NM_024592.5(SRD5A3):c.563-16A>C
NM_024592.5(SRD5A3):c.586T>C (p.Leu196=)
NM_024592.5(SRD5A3):c.627G>A (p.Met209Ile)
NM_024592.5(SRD5A3):c.63G>A (p.Thr21=)
NM_024592.5(SRD5A3):c.697+13T>C
NM_024592.5(SRD5A3):c.789C>T (p.Tyr263=)
NM_024592.5(SRD5A3):c.918C>T (p.Tyr306=)
NM_024592.5(SRD5A3):c.927T>C (p.His309=)
NM_024592.5(SRD5A3):c.942A>G (p.Leu314=) rs1488770806

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