ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Athena Diagnostics Inc

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859
NM_000525.3(KCNJ11):c.1009G>A (p.Val337Ile) rs5215
NM_000525.3(KCNJ11):c.1143G>A (p.Lys381=) rs8175351
NM_000525.3(KCNJ11):c.570C>T (p.Ala190=) rs5218
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000525.3(KCNJ11):c.801C>G (p.Leu267=) rs5216
NM_000525.3(KCNJ11):c.808C>G (p.Leu270Val) rs1800467
NM_005271.5(GLUD1):c.646+16_646+17del rs201141455
NM_005271.5(GLUD1):c.942A>G (p.Leu314=) rs9421572
NM_006516.3(SLC2A1):c.45C>T (p.Ala15=) rs1385129
NM_006516.3(SLC2A1):c.588G>A (p.Pro196=) rs2229682

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