ClinVar Miner

List of variants reported as benign for Krabbe disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 107
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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_022124.6(CDH23):c.*349A>G rs1867978 0.77194
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_002778.4(PSAP):c.1432-22C>T rs885828 0.34727
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34512
NM_002778.4(PSAP):c.*891G>A rs7869 0.34207
NM_000153.4(GALC):c.264+108G>A rs2245387 0.30074
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666 0.29819
NM_002778.4(PSAP):c.1431+116C>T rs749823 0.20609
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_002778.4(PSAP):c.1540-34C>T rs4747202 0.13788
NM_002778.4(PSAP):c.1005+18C>T rs55829339 0.13764
NM_000153.4(GALC):c.195+34G>T rs143228205 0.13486
NM_002778.4(PSAP):c.-4C>T rs2070188 0.12811
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.752+56T>C rs76521220 0.11410
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_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_022124.6(CDH23):c.*510G>A rs1054635 0.07812
NM_002778.4(PSAP):c.909+32G>T rs41307569 0.06451
NM_000153.4(GALC):c.*709A>C rs45572135 0.05219
NM_000153.4(GALC):c.1620= (p.Thr540=) rs367327 0.04389
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
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_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900 0.02056
NM_000153.4(GALC):c.1072C>T (p.Leu358=) rs74073730 0.01792
NM_002778.4(PSAP):c.*775G>A rs79662404 0.01440
NM_002778.4(PSAP):c.-10A>G rs76455588 0.01197
NM_002778.4(PSAP):c.78C>T (p.Thr26=) rs74145688 0.00850
NM_002778.4(PSAP):c.1452G>A (p.Ser484=) rs114389264 0.00778
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.195+10A>G rs191767015 0.00653
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_002778.4(PSAP):c.1380C>T (p.Pro460=) rs1049882 0.00284
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.195+19G>A rs189853941 0.00198
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_002778.4(PSAP):c.336C>T (p.Ser112=) rs370977178 0.00003
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
NM_002778.4(PSAP):c.1193-26G>A rs3747860
NM_002778.4(PSAP):c.570G>T (p.Gln190His) rs142272618
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197

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