ClinVar Miner

List of variants in gene SRD5A3 studied for SRD5A3-CDG

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP
NM_024592.5(SRD5A3):c.140A>G (p.Gln47Arg)
NM_024592.5(SRD5A3):c.286_288delinsTGAGTAAGGC (p.Gln96Ter) rs587776521
NM_024592.5(SRD5A3):c.29C>A (p.Ser10Ter) rs267607094
NM_024592.5(SRD5A3):c.320G>A (p.Trp107Ter) rs267607093
NM_024592.5(SRD5A3):c.334C>T (p.Leu112Phe)
NM_024592.5(SRD5A3):c.424C>T (p.Arg142Ter) rs267607095
NM_024592.5(SRD5A3):c.489C>A (p.Tyr163Ter) rs267607092
NM_024592.5(SRD5A3):c.497G>A (p.Gly166Glu)
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401
NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter) rs765191836
NM_024592.5(SRD5A3):c.672C>T (p.Leu224=) rs144834899
NM_024592.5(SRD5A3):c.695C>A (p.Ala232Glu)
NM_024592.5(SRD5A3):c.925C>G (p.His309Asp) rs61733673
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) rs565935886

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