ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_000512.5(GALNS):c.1003-134del rs3833041 0.03986
NM_000512.5(GALNS):c.1139+108C>T rs115789441 0.03980
NM_000512.5(GALNS):c.566+195T>C rs117577078 0.03810
NM_000512.5(GALNS):c.898+100C>T rs117163814 0.03711
NM_000512.5(GALNS):c.566+110T>G rs16965092 0.03692
NM_000512.5(GALNS):c.423-128A>G rs3743542 0.03687
NM_000512.5(GALNS):c.423-89A>G rs3743543 0.03679
NM_000512.5(GALNS):c.423-239G>A rs118162132 0.03676
NM_000512.5(GALNS):c.633+157G>A rs147408884 0.03588
NM_000512.5(GALNS):c.567-247G>A rs146543079 0.03114
NM_000512.5(GALNS):c.567-259G>A rs143875431 0.03108
NM_000512.5(GALNS):c.1002+174C>T rs2061376 0.02219
NM_000512.5(GALNS):c.244+59C>T rs150155464 0.01819
NM_000512.5(GALNS):c.423-161C>T rs117215304 0.01776
NM_000512.5(GALNS):c.1243-324G>T rs150894695 0.01179
NM_000512.5(GALNS):c.1139+237C>A rs142114511 0.01148
NM_000512.5(GALNS):c.1002+17C>T rs78494153 0.01020
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_000512.5(GALNS):c.121-210C>T rs75552025 0.00974
NM_000512.5(GALNS):c.1243-45G>A rs79025743 0.00909
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_000512.5(GALNS):c.899-4C>G rs143793386 0.00779
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_000512.5(GALNS):c.*236C>T rs189375208 0.00701
NM_000512.5(GALNS):c.1242+29G>A rs115524203 0.00597
NM_000512.5(GALNS):c.1002+157A>G rs3933762 0.00498
NM_000512.5(GALNS):c.1002+172A>G rs2061375 0.00390
NM_000512.5(GALNS):c.324C>T (p.Tyr108=) rs150582627 0.00077
NM_000512.5(GALNS):c.756G>A (p.Gly252=) rs146538873 0.00021
NM_000512.5(GALNS):c.771C>T (p.Ala257=) rs370586494 0.00021
NM_000512.5(GALNS):c.138C>T (p.Leu46=) rs140588640 0.00009
NM_000512.5(GALNS):c.1002+108C>G
NM_000512.5(GALNS):c.1002+307G>C rs866140272
NM_000512.5(GALNS):c.1140-164_1140-163insCCCAGGCACCCCAGCCCCGGACA rs371781935
NM_000512.5(GALNS):c.1140-256_1140-242del rs373492223
NM_000512.5(GALNS):c.1243-243G>A rs115109426
NM_000512.5(GALNS):c.1364+8G>T rs368171136
NM_000512.5(GALNS):c.1485C>T (p.Asn495=)
NM_000512.5(GALNS):c.306C>T (p.Ala102=)
NM_000512.5(GALNS):c.423-1049C>T
NM_000512.5(GALNS):c.566+186T>C
NM_000512.5(GALNS):c.758+94C>T
NM_000512.5(GALNS):c.759-129G>C rs117958182

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