ClinVar Miner

List of variants in gene GALC studied for not specified

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Total variants: 40
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HGVS dbSNP
NM_000153.4(GALC):c.1072C>T (p.Leu358=) rs74073730
NM_000153.4(GALC):c.1161+38T>C rs17687109
NM_000153.4(GALC):c.1162-4T>A rs774455523
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.4(GALC):c.1620A>G (p.Thr540=) rs367327
NM_000153.4(GALC):c.1670+19A>T rs141839955
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.1731C>T (p.Phe577=) rs201560122
NM_000153.4(GALC):c.1834+5C>G rs448805
NM_000153.4(GALC):c.18C>G (p.Leu6=) rs886038260
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.2035T>C (p.Phe679Leu) rs779202612
NM_000153.4(GALC):c.328+19T>A rs74337989
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.329-35G>A rs77466023
NM_000153.4(GALC):c.330C>T (p.Asp110=) rs11552556
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
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.443-12T>G rs886038261
NM_000153.4(GALC):c.443-30C>T rs886038262
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078
NM_000153.4(GALC):c.60C>T (p.Ala20=) rs188488238
NM_000153.4(GALC):c.61G>C (p.Ala21Pro) rs111887056
NM_000153.4(GALC):c.621+24T>C rs45568734
NM_000153.4(GALC):c.659G>A (p.Arg220Gln) rs199967869
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.913A>G (p.Ile305Val) rs74887188
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666
NM_001201401.1(GALC):c.-80_-75del rs564526560

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