ClinVar Miner

List of variants in gene GALNS reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_000512.5(GALNS):c.*236C>T rs189375208
NM_000512.5(GALNS):c.*546C>T rs114447455
NM_000512.5(GALNS):c.1005G>C (p.Val335=) rs772871566
NM_000512.5(GALNS):c.1071G>A (p.Pro357=) rs374619390
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270
NM_000512.5(GALNS):c.1140-5C>T
NM_000512.5(GALNS):c.1182C>A (p.Thr394=) rs1414082372
NM_000512.5(GALNS):c.1230G>A (p.Glu410=) rs567507214
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) rs142822371
NM_000512.5(GALNS):c.1336C>T (p.Arg446Trp) rs557217245
NM_000512.5(GALNS):c.1364+8G>A rs368171136
NM_000512.5(GALNS):c.1374C>T (p.Ser458=) rs534204869
NM_000512.5(GALNS):c.1377C>T (p.Ala459=) rs757704061
NM_000512.5(GALNS):c.138C>T (p.Leu46=)
NM_000512.5(GALNS):c.1409C>T (p.Ser470Leu)
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058
NM_000512.5(GALNS):c.1551G>A (p.Lys517=)
NM_000512.5(GALNS):c.168C>G (p.Thr56=) rs368128023
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929
NM_000512.5(GALNS):c.324C>T (p.Tyr108=) rs150582627
NM_000512.5(GALNS):c.330G>A (p.Pro110=) rs374355420
NM_000512.5(GALNS):c.597G>A (p.Lys199=)
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987
NM_000512.5(GALNS):c.771C>T (p.Ala257=) rs370586494
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258
NM_000512.5(GALNS):c.822C>T (p.Asp274=)
NM_000512.5(GALNS):c.828C>T (p.His276=) rs759216815
NM_000512.5(GALNS):c.857C>T (p.Thr286Met) rs137927658
NM_000512.5(GALNS):c.858G>A (p.Thr286=) rs140299014
NM_000512.5(GALNS):c.885C>T (p.Ser295=)

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