ClinVar Miner

List of variants in gene GYS1 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: 54
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HGVS dbSNP
NM_002103.4(GYS1):c.-253delG rs370753423
NM_002103.5(GYS1):c.*256G>A
NM_002103.5(GYS1):c.1062+10G>A
NM_002103.5(GYS1):c.1063-4G>A
NM_002103.5(GYS1):c.1068C>T (p.Asn356=) rs746981890
NM_002103.5(GYS1):c.1083A>G (p.Thr361=) rs149865396
NM_002103.5(GYS1):c.1110G>A (p.Ala370=)
NM_002103.5(GYS1):c.1128C>T (p.Asn376=)
NM_002103.5(GYS1):c.1137C>T (p.Thr379=)
NM_002103.5(GYS1):c.1155G>A (p.Val385=)
NM_002103.5(GYS1):c.1218A>G (p.Glu406=)
NM_002103.5(GYS1):c.1246A>G (p.Met416Val) rs5447
NM_002103.5(GYS1):c.1288A>C (p.Arg430=)
NM_002103.5(GYS1):c.1305G>A (p.Thr435=) rs147610727
NM_002103.5(GYS1):c.1308+8T>C rs371156570
NM_002103.5(GYS1):c.1309-4G>A rs112034326
NM_002103.5(GYS1):c.1309-8T>C
NM_002103.5(GYS1):c.1332C>T (p.Cys444=) rs377125421
NM_002103.5(GYS1):c.1338C>T (p.His446=)
NM_002103.5(GYS1):c.1401T>C (p.Asn467=) rs574896397
NM_002103.5(GYS1):c.1416G>A (p.Arg472=)
NM_002103.5(GYS1):c.147G>A (p.Thr49=)
NM_002103.5(GYS1):c.150G>A (p.Lys50=) rs1600154925
NM_002103.5(GYS1):c.1512C>T (p.Val504=)
NM_002103.5(GYS1):c.1518C>T (p.Pro506=)
NM_002103.5(GYS1):c.153G>A (p.Ala51=)
NM_002103.5(GYS1):c.1549+10G>A
NM_002103.5(GYS1):c.1704C>T (p.Thr568=)
NM_002103.5(GYS1):c.1779C>T (p.Ser593=)
NM_002103.5(GYS1):c.177C>T (p.Gly59=) rs779646777
NM_002103.5(GYS1):c.1809+7C>T rs750481025
NM_002103.5(GYS1):c.1810-6C>T rs112366219
NM_002103.5(GYS1):c.1908C>T (p.Tyr636=)
NM_002103.5(GYS1):c.1995C>T (p.Asn665=)
NM_002103.5(GYS1):c.2001G>T (p.Pro667=)
NM_002103.5(GYS1):c.2070A>G (p.Ala690=)
NM_002103.5(GYS1):c.300+7C>T rs759904590
NM_002103.5(GYS1):c.300+8G>A rs5454
NM_002103.5(GYS1):c.309C>T (p.Phe103=)
NM_002103.5(GYS1):c.348C>T (p.Leu116=)
NM_002103.5(GYS1):c.375C>A (p.Ala125=)
NM_002103.5(GYS1):c.477C>G (p.Thr159=)
NM_002103.5(GYS1):c.492+10G>A
NM_002103.5(GYS1):c.547T>C (p.Leu183=)
NM_002103.5(GYS1):c.555C>T (p.Gly185=) rs2229612
NM_002103.5(GYS1):c.603C>T (p.Ile201=)
NM_002103.5(GYS1):c.637C>T (p.Leu213=) rs764668070
NM_002103.5(GYS1):c.645C>G (p.Ala215=)
NM_002103.5(GYS1):c.645C>T (p.Ala215=)
NM_002103.5(GYS1):c.681C>T (p.Phe227=)
NM_002103.5(GYS1):c.759C>T (p.His253=)
NM_002103.5(GYS1):c.813G>A (p.Lys271=) rs942457914
NM_002103.5(GYS1):c.885C>T (p.Asn295=)
NM_002103.5(GYS1):c.927G>C (p.Arg309=)

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