ClinVar Miner

List of variants in gene GCDH reported by PreventionGenetics, part of Exact Sciences

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.1173G>T (p.Gly391=) rs1060218 0.30844
NM_000159.4(GCDH):c.505+32G>A rs73505326 0.05459
NM_000159.4(GCDH):c.1085C>A (p.Ala362Asp) rs114759170 0.00453
NM_000159.4(GCDH):c.417G>A (p.Ser139=) rs201583578 0.00024
NM_000159.4(GCDH):c.738G>A (p.Ser246=) rs188548539 0.00023
NM_000159.4(GCDH):c.1213A>G (p.Met405Val) rs141437721 0.00018
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys) rs147611168 0.00014
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095 0.00003
NM_000159.4(GCDH):c.1209C>T (p.His403=) rs747746632 0.00002
NM_000159.4(GCDH):c.553G>A (p.Gly185Arg) rs576948027 0.00002
NM_000159.4(GCDH):c.460G>A (p.Ala154Thr) rs759415410 0.00001
NM_000159.4(GCDH):c.1003A>C (p.Lys335Gln)
NM_000159.4(GCDH):c.1065C>A (p.Arg355=) rs112816231
NM_000159.4(GCDH):c.1167G>A (p.Leu389=) rs398123191
NM_000159.4(GCDH):c.1173dup (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter) rs776082304
NM_000159.4(GCDH):c.561C>A (p.Asp187Glu)

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