ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.1339-221T>A rs73329338 0.01442
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918 0.00674
NM_000153.4(GALC):c.1788C>T (p.Phe596=) rs115018138 0.00658
NM_000153.4(GALC):c.908+229G>A rs189788968 0.00658
NM_000153.4(GALC):c.621+94G>T rs149814143 0.00649
NM_000153.4(GALC):c.582+240_582+242dup rs1259652443 0.00577
NM_000153.4(GALC):c.1489+134G>A rs17123928 0.00531
NM_000153.4(GALC):c.1489+133C>T rs116056744 0.00484
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328 0.00483
NM_000153.4(GALC):c.1490-245C>G rs141431914 0.00483
NM_000153.4(GALC):c.1490-205A>G rs115987290 0.00482
NM_000153.4(GALC):c.622-166C>T rs527451288 0.00448
NM_000153.4(GALC):c.622-167G>C rs547582334 0.00436
NM_000153.4(GALC):c.-66G>T rs146439771 0.00434
NM_000153.4(GALC):c.582+209G>T rs113631096 0.00331
NM_000153.4(GALC):c.1162-33A>G rs113021000 0.00322
NM_000153.4(GALC):c.1236T>A (p.Val412=) rs112531377 0.00321
NM_000153.4(GALC):c.1033+134G>T rs111872618 0.00320
NM_000153.4(GALC):c.1834+23A>T rs367926377 0.00302
NM_000153.4(GALC):c.1251+47A>G rs148098570 0.00300
NM_000153.4(GALC):c.443-189G>A rs190926611 0.00300
NM_000153.4(GALC):c.442+36T>G rs140065772 0.00299
NM_000153.4(GALC):c.1670+19A>T rs141839955 0.00298
NM_000153.4(GALC):c.-463C>T rs181956126 0.00254
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000153.4(GALC):c.1862G>A (p.Arg621His) rs192911803 0.00224
NM_000153.4(GALC):c.-318T>C rs556647825 0.00210
NM_000153.4(GALC):c.909-40A>G rs199667484 0.00208
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089 0.00199
NM_000153.4(GALC):c.1632T>C (p.Asp544=) rs9672064 0.00196
NM_000153.4(GALC):c.-327G>T rs185943390 0.00120
NM_000153.4(GALC):c.1434G>A (p.Pro478=) rs200231860 0.00042
NM_000153.4(GALC):c.1161+66C>T rs59068116 0.00028
NM_000153.4(GALC):c.1272G>A (p.Gln424=) rs376675180 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000153.2(GALC):c.-285G>A rs557653194 0.00016
NM_000153.4(GALC):c.60C>T (p.Ala20=) rs188488238 0.00013
NM_000153.4(GALC):c.328+6A>G rs201977747 0.00011
NM_000153.4(GALC):c.18C>G (p.Leu6=) rs886038260 0.00006
NM_000153.4(GALC):c.639G>C (p.Leu213=) rs373343608 0.00004
NM_000153.4(GALC):c.1791C>T (p.Phe597=) rs1002946173 0.00003
NM_000153.4(GALC):c.1587G>A (p.Thr529=) rs184748969 0.00002
NM_000153.4(GALC):c.1005C>T (p.Tyr335=) rs1319599087 0.00001
NM_000153.4(GALC):c.1251T>C (p.Phe417=) rs200605515 0.00001
NM_000153.4(GALC):c.1572C>T (p.Gly524=) rs753164684 0.00001
NM_000153.2(GALC):c.-237G>A
NM_000153.3(GALC):c.1834+22dup rs34752717
NM_000153.4(GALC):c.1034-62del rs201562753
NM_000153.4(GALC):c.1034-72dup rs201562753
NM_000153.4(GALC):c.1131A>G (p.Leu377=) rs2139991961
NM_000153.4(GALC):c.1161+248del rs143103231
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1302C>G (p.Ser434=)
NM_000153.4(GALC):c.1698A>G (p.Val566=) rs421466
NM_000153.4(GALC):c.1758T>C (p.Gly586=) rs746189262
NM_000153.4(GALC):c.196-4_196-3del rs561184126
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.443-127_443-123del rs140138159
NM_000153.4(GALC):c.582+241_582+243dup rs36113094
NM_000153.4(GALC):c.69G>T (p.Ser23=) rs763851570
NM_000153.4(GALC):c.789A>G (p.Ala263=) rs1886147283

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