ClinVar Miner

List of variants in gene GCDH reported as likely pathogenic by Invitae

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn) rs200785120 0.00010
NM_000159.4(GCDH):c.268G>A (p.Glu90Lys) rs1025558859 0.00004
NM_000159.4(GCDH):c.1148G>A (p.Arg383His) rs764608975 0.00003
NM_000159.4(GCDH):c.394C>T (p.Arg132Trp) rs372429120 0.00002
NM_000159.4(GCDH):c.1213dup (p.Met405fs) rs1377352983 0.00001
NM_000159.4(GCDH):c.278A>T (p.His93Leu) rs398123192 0.00001
NM_000159.4(GCDH):c.466G>A (p.Gly156Ser) rs767351827 0.00001
NM_000159.4(GCDH):c.737C>T (p.Ser246Leu) rs754312389 0.00001
NM_000159.4(GCDH):c.833C>T (p.Pro278Leu) rs755054282 0.00001
NC_000019.9:g.(?_13004287)_(13004477_?)del
NM_000159.4(GCDH):c.1048T>C (p.Cys350Arg)
NM_000159.4(GCDH):c.1082+1G>A
NM_000159.4(GCDH):c.1083-2A>C rs2145954766
NM_000159.4(GCDH):c.1116G>C (p.Arg372Ser)
NM_000159.4(GCDH):c.1118A>G (p.Asn373Ser) rs1568429137
NM_000159.4(GCDH):c.1132G>A (p.Ala378Thr) rs1442597198
NM_000159.4(GCDH):c.1156C>G (p.Arg386Gly) rs752127949
NM_000159.4(GCDH):c.1186G>A (p.Asp396Asn)
NM_000159.4(GCDH):c.1199T>C (p.Val400Ala) rs2145955176
NM_000159.4(GCDH):c.1209C>G (p.His403Gln) rs747746632
NM_000159.4(GCDH):c.1214T>C (p.Met405Thr)
NM_000159.4(GCDH):c.1219C>G (p.Leu407Val)
NM_000159.4(GCDH):c.1243+1G>C
NM_000159.4(GCDH):c.244C>T (p.Arg82Cys)
NM_000159.4(GCDH):c.245G>C (p.Arg82Pro) rs1568424857
NM_000159.4(GCDH):c.262C>G (p.Arg88Gly) rs142967670
NM_000159.4(GCDH):c.272-2A>C rs1555749369
NM_000159.4(GCDH):c.280C>T (p.Arg94Trp) rs771602677
NM_000159.4(GCDH):c.334+1G>A
NM_000159.4(GCDH):c.338A>G (p.Tyr113Cys) rs1970602621
NM_000159.4(GCDH):c.398T>G (p.Val133Gly) rs772549903
NM_000159.4(GCDH):c.413G>A (p.Arg138Lys) rs747370741
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr) rs1555749927
NM_000159.4(GCDH):c.510G>T (p.Lys170Asn)
NM_000159.4(GCDH):c.511G>C (p.Gly171Arg) rs2145950047
NM_000159.4(GCDH):c.535C>T (p.Leu179Phe)
NM_000159.4(GCDH):c.659A>T (p.Asp220Val)
NM_000159.4(GCDH):c.679C>G (p.Arg227Gly)
NM_000159.4(GCDH):c.680G>A (p.Arg227Gln) rs121434373
NM_000159.4(GCDH):c.680G>T (p.Arg227Leu) rs121434373
NM_000159.4(GCDH):c.701G>A (p.Arg234Gln) rs1203022386
NM_000159.4(GCDH):c.787A>G (p.Met263Val)
NM_000159.4(GCDH):c.788T>C (p.Met263Thr)
NM_000159.4(GCDH):c.852+1G>A rs1367214521
NM_000159.4(GCDH):c.881G>T (p.Arg294Leu) rs775606471
NM_000159.4(GCDH):c.957-1G>T

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