ClinVar Miner

List of variants in gene GALC reported as benign for Krabbe disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
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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.1251+150C>T rs417521 0.95597
NM_000153.4(GALC):c.1834+5C>G rs448805 0.95475
NM_000153.4(GALC):c.*989G>A rs370559 0.95463
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262 0.95462
NM_000153.4(GALC):c.1835-79A>G rs417276 0.95459
NM_000153.4(GALC):c.*627A>G rs413750 0.95456
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.*723G>A rs412915 0.49978
NM_000153.4(GALC):c.*626C>T rs432946 0.49976
NM_000153.4(GALC):c.*1453A>G rs405567 0.49973
NM_000153.4(GALC):c.1670+60C>T rs366615 0.49953
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_000153.4(GALC):c.*590T>C rs1042029 0.45472
NM_000153.4(GALC):c.*1186_*1188del rs141199615 0.45391
NM_000153.4(GALC):c.*1275G>A rs1042042 0.45032
NM_000153.4(GALC):c.1671-15C>T rs12432149 0.45011
NM_000153.4(GALC):c.*1588T>G rs17198 0.44979
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.264+108G>A rs2245387 0.30074
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.753-59C>T rs17687364 0.11436
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.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.621+63T>A rs17797987 0.11416
NM_000153.4(GALC):c.621+98T>C rs17797981 0.11415
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.*1126G>A rs1042035 0.11091
NM_000153.4(GALC):c.*709A>C rs45572135 0.05219
NM_000153.4(GALC):c.1620= (p.Thr540=) rs367327 0.04389
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.*395C>T rs3850376 0.00770
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.1403C>G (p.Thr468Ser) rs34134328 0.00483
NM_000153.4(GALC):c.-66G>T rs146439771 0.00434
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.1236T>A (p.Val412=) rs112531377 0.00321
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.-463C>T rs181956126 0.00254
NM_000153.4(GALC):c.-318T>C rs556647825 0.00210
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.1147A>G (p.Ile383Val) rs199723885 0.00036
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala) rs200219480 0.00023
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_000153.4(GALC):c.1251+18A>G rs369997150 0.00016
NM_000153.4(GALC):c.1731C>T (p.Phe577=) rs201560122 0.00006
NM_000153.4(GALC):c.-287G>A rs73312836
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1162-4dup rs11300320
NM_000153.4(GALC):c.1339-8dup rs779423756
NM_000153.4(GALC):c.1671-10dup
NM_000153.4(GALC):c.196-19del
NM_000153.4(GALC):c.196-3del rs561184126
NM_000153.4(GALC):c.196-3dup rs561184126
NM_000153.4(GALC):c.196-4_196-3del rs561184126
NM_000153.4(GALC):c.583-108G>T rs17797993
NM_000153.4(GALC):c.753-13_753-12dup rs533067313
NM_000153.4(GALC):c.753-5dup rs533067313
NM_000153.4(GALC):c.909-3del rs1212915595

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