ClinVar Miner

List of variants reported as benign for carbohydrate metabolism disease by Phosphorus, Inc.

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.*3G>A rs1800317
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303
NM_000642.3(AGL):c.-10A>G rs2307130
NM_000642.3(AGL):c.2812+11G>A rs555929
NM_000642.3(AGL):c.686A>G (p.Gln229Arg) rs17121403
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306

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