ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_001041.4(SI):c.*198G>T
NM_001041.4(SI):c.*426G>A rs111300332
NM_001041.4(SI):c.*68T>C rs73018867
NM_001041.4(SI):c.1146+13A>C rs9290259
NM_001041.4(SI):c.1437C>T (p.Asn479=) rs9290257
NM_001041.4(SI):c.1797G>T (p.Ala599=) rs9838509
NM_001041.4(SI):c.374-11del rs11313475
NM_001041.4(SI):c.43G>T (p.Val15Phe) rs9290264
NM_001041.4(SI):c.4569G>A (p.Met1523Ile) rs4855271
NM_001041.4(SI):c.4779T>C (p.Phe1593=) rs78428100
NM_001041.4(SI):c.4842-4C>T rs78032315
NM_001041.4(SI):c.517C>G (p.Pro173Ala) rs146960446
NM_001041.4(SI):c.5197+8C>T rs6799858
NM_001041.4(SI):c.5405C>G (p.Thr1802Ser) rs9917722
NM_001041.4(SI):c.567G>A (p.Leu189=) rs76463353
NM_001041.4(SI):c.691A>G (p.Thr231Ala) rs9283633

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