ClinVar Miner

List of variants in gene SI 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: 11
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HGVS dbSNP
NM_001041.4(SI):c.*314del rs145227457
NM_001041.4(SI):c.2244+14G>A
NM_001041.4(SI):c.2737-23dup rs11452619
NM_001041.4(SI):c.2737-9dup rs747324303
NM_001041.4(SI):c.2887A>C (p.Arg963=) rs113456182
NM_001041.4(SI):c.4026A>G (p.Thr1342=) rs74648160
NM_001041.4(SI):c.4044G>A (p.Thr1348=) rs75253993
NM_001041.4(SI):c.4268-14T>C rs201151548
NM_001041.4(SI):c.483+4C>T rs13086543
NM_001041.4(SI):c.4841+9A>G rs114438312
NM_001041.4(SI):c.598A>G (p.Ser200Gly) rs113903766

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