ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.1670+204T>C rs430536 0.97273
NM_000153.4(GALC):c.1162-152G>A rs443019 0.95942
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466 0.95773
NM_000153.4(GALC):c.1912-220T>G rs390474 0.95773
NM_000153.4(GALC):c.1162-69G>A rs431748 0.95607
NM_000153.4(GALC):c.1251+150C>T rs417521 0.95597
NM_000153.4(GALC):c.1252-166G>A rs451073 0.95595
NM_000153.4(GALC):c.1162-197T>C rs428542 0.95592
NM_000153.4(GALC):c.908+270T>A rs397644 0.95591
NM_000153.4(GALC):c.1252-115T>C rs440426 0.95582
NM_000153.4(GALC):c.1834+5C>G rs448805 0.95475
NM_000153.4(GALC):c.1912-170C>T rs433764 0.95467
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262 0.95462
NM_000153.4(GALC):c.1670+94A>G rs444902 0.95460
NM_000153.4(GALC):c.1835-79A>G rs417276 0.95459
NM_000153.4(GALC):c.1671-319A>G rs367125 0.95457
NM_000153.4(GALC):c.1339-61C>T rs398343 0.95455
NM_000153.4(GALC):c.196-43C>T rs2289511 0.59150
NM_000153.4(GALC):c.1670+60C>T rs366615 0.49953
NM_000153.4(GALC):c.1912-221C>T rs434541 0.49949
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_000153.4(GALC):c.1671-162A>G rs381069 0.46023
NM_000153.4(GALC):c.1490-233C>T rs3910682 0.45538
NM_000153.4(GALC):c.1338+159C>T rs3213917 0.45220
NM_000153.4(GALC):c.1671-15C>T rs12432149 0.45011
NM_000153.4(GALC):c.1911+122C>G rs45567441 0.44852
NM_000153.4(GALC):c.1911+129G>A rs45626938 0.44823
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076 0.39907
NM_000153.4(GALC):c.1338+172C>T rs3213916 0.30746
NM_000153.4(GALC):c.264+108G>A rs2245387 0.30074
NM_000153.4(GALC):c.329-240T>C rs2165567 0.29858
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666 0.29819
NM_000153.4(GALC):c.329-332A>C rs2119702 0.28381
NM_000153.4(GALC):c.622-284C>T rs112469201 0.12081
NM_000153.4(GALC):c.328+19T>A rs74337989 0.12002
NM_000153.4(GALC):c.1034-125G>C rs17760374 0.11466
NM_000153.4(GALC):c.443-51G>A rs77468347 0.11443
NM_000153.4(GALC):c.622-273G>A rs148708614 0.11438
NM_000153.4(GALC):c.753-59C>T rs17687364 0.11436
NM_000153.4(GALC):c.908+122G>A rs10483988 0.11435
NM_000153.4(GALC):c.196-70G>A rs74689143 0.11432
NM_000153.4(GALC):c.583-56G>A rs79515863 0.11428
NM_000153.4(GALC):c.582+99C>T rs17798011 0.11427
NM_000153.4(GALC):c.583-288G>A rs74563284 0.11425
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_000153.4(GALC):c.1033+145A>G rs17760463 0.11423
NM_000153.4(GALC):c.1161+301C>T rs3906822 0.11421
NM_000153.4(GALC):c.621+24T>C rs45568734 0.11420
NM_000153.4(GALC):c.1034-270A>G rs78508589 0.11417
NM_000153.4(GALC):c.1161+38T>C rs17687109 0.11416
NM_000153.4(GALC):c.621+63T>A rs17797987 0.11416
NM_000153.4(GALC):c.621+98T>C rs17797981 0.11415
NM_000153.4(GALC):c.1034-314A>G rs17687144 0.11413
NM_000153.4(GALC):c.622-175C>T rs111931900 0.11402
NM_000153.4(GALC):c.622-162del rs112016425 0.11400
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.195+164G>A rs78727833 0.11288
NM_000153.4(GALC):c.75C>A (p.Gly25=) rs111976362 0.11287
NM_000153.2(GALC):c.-148T>C rs76999174 0.11247
NM_000153.4(GALC):c.1835-204C>G rs112634971 0.09818
NM_000153.4(GALC):c.1489+187G>T rs17123925 0.09033
NM_000153.4(GALC):c.1339-79A>G rs60797274 0.07821
NM_000153.4(GALC):c.909-193A>G rs72692072 0.03916
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078 0.03877
NM_000153.4(GALC):c.1338+260G>A rs7161703 0.03704
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.328+44A>G rs73312826 0.02319
NM_000153.4(GALC):c.1671-155T>G rs74073881 0.01821
NM_000153.4(GALC):c.1338+23T>C rs74076317 0.01816
NM_000153.4(GALC):c.1161+240T>G rs74073729 0.01799
NM_000153.4(GALC):c.1072C>T (p.Leu358=) rs74073730 0.01792
NM_000153.4(GALC):c.622-325C>T rs146803770 0.01675
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.913A>G (p.Ile305Val) rs74887188 0.00270
NM_000153.4(GALC):c.1731C>T (p.Phe577=) rs201560122 0.00006
GRCh37/hg19 14q31.3(chr14:88382306-88419358)x1
GRCh37/hg19 14q31.3(chr14:88399247-88420282)x1
GRCh37/hg19 14q31.3(chr14:88399488-88422442)x1
NM_000153.3(GALC):c.1834+22dup rs34752717
NM_000153.4(GALC):c.-287G>A rs73312836
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1686A>T (p.Ile562=) rs2139941725
NM_000153.4(GALC):c.1912-238T>C rs79558046
NM_000153.4(GALC):c.196-201del rs112118889
NM_000153.4(GALC):c.196-3del rs561184126
NM_000153.4(GALC):c.582+241_582+242dup rs36113094
NM_000153.4(GALC):c.582+241dup rs36113094
NM_000153.4(GALC):c.582+256_582+258del rs36113094
NM_000153.4(GALC):c.582+258del rs36113094
NM_000153.4(GALC):c.583-108G>A rs17797993
NM_000153.4(GALC):c.583-108G>T rs17797993
NM_000153.4(GALC):c.622-137CAAA[4] rs146880216
NM_000153.4(GALC):c.753-5dup rs533067313

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