ClinVar Miner

List of variants in gene GALNS, TRAPPC2L studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NC_000016.10:g.(?_88814419)_(88856897_?)del
NC_000016.10:g.(?_88856738)_(88856897_?)del
NM_000512.4(GALNS):c.-92T>C rs116702472
NM_000512.5(GALNS):c.-10C>G rs781533703
NM_000512.5(GALNS):c.-32C>T
NM_000512.5(GALNS):c.-54G>A rs369448232
NM_000512.5(GALNS):c.-58C>A
NM_000512.5(GALNS):c.-58C>G
NM_000512.5(GALNS):c.-68C>T rs144789309
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg) rs755832705
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly)
NM_000512.5(GALNS):c.118G>C (p.Asp40His)
NM_000512.5(GALNS):c.120+1G>C
NM_000512.5(GALNS):c.120+4A>G
NM_000512.5(GALNS):c.47T>A (p.Val16Glu) rs794729202
NM_000512.5(GALNS):c.53G>C (p.Ser18Thr) rs763093375
NM_000512.5(GALNS):c.66G>T (p.Met22Ile)
NM_000512.5(GALNS):c.77G>A (p.Gly26Asp)
NM_000512.5(GALNS):c.89C>T (p.Pro30Leu)
NM_000512.5(GALNS):c.97A>G (p.Ile33Val)

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