ClinVar Miner

List of variants in gene GALC reported as likely pathogenic for not provided

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Total variants: 11
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HGVS dbSNP
NM_000153.4(GALC):c.1031C>G (p.Ser344Ter) rs1555381559
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.4(GALC):c.155del (p.Gly52fs) rs1064793131
NM_000153.4(GALC):c.173del (p.Ile58fs) rs1064795927
NM_000153.4(GALC):c.1897dup (p.Thr633fs) rs1555378538
NM_000153.4(GALC):c.195+1G>A rs1009872980
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057
NM_000153.4(GALC):c.832A>C (p.Thr278Pro) rs886042645
NM_000153.4(GALC):c.862T>C (p.Trp288Arg) rs398123177

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