ClinVar Miner

List of variants in gene GALC reported by Clinical Genetics Karolinska University Hospital,Karolinska University Hospital

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Gene type:
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Total variants: 10
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NM_000153.4(GALC):c.1083dup (p.Gly362fs)
NM_000153.4(GALC):c.1107C>G (p.Ser369Arg)
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys) rs749893889
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952
NM_000153.4(GALC):c.1934T>G (p.Leu645Arg)
NM_000153.4(GALC):c.293dup (p.Leu98fs)
NM_000153.4(GALC):c.331G>A (p.Gly111Ser) rs756690487
NM_000153.4(GALC):c.764C>G (p.Pro255Arg)
NM_000153.4(GALC):c.982C>T (p.Gln328Ter)

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