ClinVar Miner

List of variants in gene GALC reported by OMIM

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Total variants: 10
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HGVS dbSNP
GALC, 1-BP DEL, 1901T
GALC, 30-KB DEL, IVS10
GALC, GLY553ARG
GALC, IVS13DS, G-A, +1
NM_000153.4(GALC):c.1153G>T (p.Glu385Ter) rs121908010
NM_000153.4(GALC):c.121G>A (p.Gly41Ser) rs387906955
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952
NM_000153.4(GALC):c.1796T>G (p.Ile599Ser) rs387906953
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983
NM_000153.4(GALC):c.953C>G (p.Pro318Arg) rs387906954

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