ClinVar Miner

List of variants in gene GALC reported as benign by PreventionGenetics

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Gene type:
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Total variants: 19
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HGVS dbSNP
NM_000153.4(GALC):c.1161+38T>C rs17687109
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076
NM_000153.4(GALC):c.1671-15C>T rs12432149
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466
NM_000153.4(GALC):c.1834+5C>G rs448805
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262
NM_000153.4(GALC):c.195+19G>A rs189853941
NM_000153.4(GALC):c.196-43C>T rs2289511
NM_000153.4(GALC):c.328+19T>A rs74337989
NM_000153.4(GALC):c.329-35G>A rs77466023
NM_000153.4(GALC):c.397T>C (p.Leu133=) rs56194647
NM_000153.4(GALC):c.42G>C (p.Ala14=) rs112992946
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078
NM_000153.4(GALC):c.61G>C (p.Ala21Pro) rs111887056
NM_000153.4(GALC):c.621+24T>C rs45568734
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000153.4(GALC):c.75C>A (p.Gly25=) rs111976362
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666

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