ClinVar Miner

List of variants in gene GALC studied for not specified

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466 0.95773
NM_000153.4(GALC):c.1620A>G (p.Thr540=) rs367327 0.95611
NM_000153.4(GALC):c.1834+5C>G rs448805 0.95475
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262 0.95462
NM_000153.4(GALC):c.196-43C>T rs2289511 0.59150
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_000153.4(GALC):c.1671-15C>T rs12432149 0.45011
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076 0.39907
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666 0.29819
NM_000153.4(GALC):c.328+19T>A rs74337989 0.12002
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_000153.4(GALC):c.621+24T>C rs45568734 0.11420
NM_000153.4(GALC):c.1161+38T>C rs17687109 0.11416
NM_000153.4(GALC):c.329-35G>A rs77466023 0.11380
NM_000153.4(GALC):c.42G>C (p.Ala14=) rs112992946 0.11300
NM_000153.4(GALC):c.61G>C (p.Ala21Pro) rs111887056 0.11296
NM_000153.4(GALC):c.75C>A (p.Gly25=) rs111976362 0.11287
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078 0.03877
NM_000153.4(GALC):c.330C>T (p.Asp110=) rs11552556 0.03162
NM_000153.4(GALC):c.397T>C (p.Leu133=) rs56194647 0.02565
NM_000153.4(GALC):c.1072C>T (p.Leu358=) rs74073730 0.01792
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918 0.00674
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328 0.00483
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540 0.00368
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127 0.00324
NM_000153.4(GALC):c.1670+19A>T rs141839955 0.00298
NM_000153.4(GALC):c.913A>G (p.Ile305Val) rs74887188 0.00270
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089 0.00199
NM_000153.4(GALC):c.659G>A (p.Arg220Gln) rs199967869 0.00107
NM_000153.4(GALC):c.235C>T (p.Arg79Cys) rs73312829 0.00041
NM_000153.4(GALC):c.49A>G (p.Met17Val) rs376662045 0.00029
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000153.4(GALC):c.1335A>G (p.Leu445=) rs373277798 0.00015
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
NM_000153.4(GALC):c.60C>T (p.Ala20=) rs188488238 0.00013
NM_000153.4(GALC):c.1731C>T (p.Phe577=) rs201560122 0.00006
NM_000153.4(GALC):c.18C>G (p.Leu6=) rs886038260 0.00006
NM_000153.4(GALC):c.206G>A (p.Arg69Gln) rs371523347 0.00006
NM_000153.4(GALC):c.1709C>A (p.Thr570Asn) rs540808138 0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000153.4(GALC):c.226G>A (p.Glu76Lys) rs778447883 0.00004
NM_000153.4(GALC):c.500A>G (p.Asn167Ser) rs768993170 0.00004
NM_000153.4(GALC):c.2035T>C (p.Phe679Leu) rs779202612 0.00003
NM_000153.4(GALC):c.*12G>A rs372641636 0.00001
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln) rs887930208 0.00001
NM_000153.4(GALC):c.1489+9T>C rs747839251 0.00001
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro) rs1418694289 0.00001
NM_000153.4(GALC):c.1912G>A (p.Gly638Ser) rs769851272 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000153.4(GALC):c.251A>G (p.Asp84Gly) rs1555383882 0.00001
NM_000153.4(GALC):c.443-12T>G rs886038261 0.00001
NM_000153.4(GALC):c.443-30C>T rs886038262 0.00001
NM_000153.4(GALC):c.486C>A (p.Asp162Glu) rs767286511 0.00001
NM_000153.4(GALC):c.869G>A (p.Arg290His) rs746806459 0.00001
GRCh37/hg19 14q31.3(chr14:88399622-88422569)
GRCh37/hg19 14q31.3(chr14:88400251-88422569)x1
NM_000153.3(GALC):c.-66G>C
NM_000153.3(GALC):c.1834+22dup rs34752717
NM_000153.4(GALC):c.-80_-75delATCAGC rs564526560
NM_000153.4(GALC):c.1065G>T (p.Trp355Cys)
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser) rs759286485
NM_000153.4(GALC):c.1151T>C (p.Ile384Thr)
NM_000153.4(GALC):c.1162-4T>A rs774455523
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1199C>T (p.Pro400Leu)
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000153.4(GALC):c.691G>A (p.Glu231Lys) rs542231350
NM_000153.4(GALC):c.757C>T (p.His253Tyr)
NM_000153.4(GALC):c.973A>G (p.Met325Val) rs772190761

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