ClinVar Miner

List of variants in gene GALC reported by Ambry Genetics

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.-318T>C rs556647825 0.00210
NM_000153.4(GALC):c.235C>T (p.Arg79Cys) rs73312829 0.00041
NM_000153.4(GALC):c.1567C>A (p.Pro523Thr) rs370952794 0.00013
NM_000153.4(GALC):c.328+6A>G rs201977747 0.00011
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731 0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000153.4(GALC):c.868C>T (p.Arg290Cys) rs780750448 0.00003
NM_000153.4(GALC):c.1727T>C (p.Val576Ala) rs774555128 0.00001
NM_000153.4(GALC):c.2054G>A (p.Arg685His) rs529469325 0.00001
NM_000153.4(GALC):c.949T>A (p.Leu317Met) rs766071179 0.00001
NM_000153.4(GALC):c.102T>G (p.Cys34Trp)
NM_000153.4(GALC):c.1060G>A (p.Gly354Ser)
NM_000153.4(GALC):c.119G>A (p.Gly40Asp) rs572947747
NM_000153.4(GALC):c.1313T>G (p.Leu438Arg)
NM_000153.4(GALC):c.1412C>T (p.Thr471Ile)
NM_000153.4(GALC):c.1537G>A (p.Val513Ile)
NM_000153.4(GALC):c.1664A>G (p.Tyr555Cys)
NM_000153.4(GALC):c.1772G>A (p.Ser591Asn)
NM_000153.4(GALC):c.236G>A (p.Arg79His)
NM_000153.4(GALC):c.26C>T (p.Ser9Phe)
NM_000153.4(GALC):c.290T>C (p.Ile97Thr)
NM_000153.4(GALC):c.43A>G (p.Lys15Glu)
NM_000153.4(GALC):c.442+4A>G rs753169234
NM_000153.4(GALC):c.46G>A (p.Ala16Thr)
NM_000153.4(GALC):c.67T>G (p.Ser23Ala)
NM_000153.4(GALC):c.86T>G (p.Val29Gly)

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