ClinVar Miner

List of variants in gene SRD5A3 reported as 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: 17
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HGVS dbSNP gnomAD frequency
NM_024592.5(SRD5A3):c.*2589G>A rs819271 0.71550
NM_024592.5(SRD5A3):c.*1069G>A rs501679 0.65365
NM_024592.5(SRD5A3):c.*321C>T rs13149568 0.35130
NM_024592.5(SRD5A3):c.*2005T>C rs819269 0.27879
NM_024592.5(SRD5A3):c.*70C>T rs2538 0.27858
NM_024592.5(SRD5A3):c.*546G>A rs573960 0.27847
NM_024592.5(SRD5A3):c.*2368G>A rs819270 0.27839
NM_024592.5(SRD5A3):c.*879C>T rs576732 0.27835
NM_024592.5(SRD5A3):c.*2063G>A rs73236134 0.03578
NM_024592.5(SRD5A3):c.*1706G>A rs147485112 0.03469
NM_024592.5(SRD5A3):c.*1859C>T rs1047343 0.01513
NM_024592.5(SRD5A3):c.*1601G>A rs111238066 0.01486
NM_024592.5(SRD5A3):c.925C>G (p.His309Asp) rs61733673 0.01465
NM_024592.5(SRD5A3):c.-40G>A rs111568566 0.01461
NM_024592.5(SRD5A3):c.364+19T>C rs201315974 0.00081
NM_024592.5(SRD5A3):c.108G>T (p.Pro36=) rs200253126 0.00015
NM_024592.5(SRD5A3):c.*968C>T rs78470512

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