ClinVar Miner

List of variants in gene GALC reported as pathogenic by Invitae

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Gene type:
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Total variants: 16
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HGVS dbSNP
NC_000014.8:g.(?_88401056)_(88417112_?)del
NC_000014.8:g.(?_88434659)_(88434854_?)del
NM_000153.4(GALC):c.1004A>G (p.Tyr335Cys)
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) rs771111145
NM_000153.4(GALC):c.379C>T (p.Arg127Ter) rs200532368
NM_000153.4(GALC):c.453G>A (p.Trp151Ter)
NM_000153.4(GALC):c.599C>A (p.Ser200Ter) rs786204618
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983
NM_000153.4(GALC):c.946C>T (p.Gln316Ter) rs776368825
NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer) rs1057516808

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