ClinVar Miner

List of variants reported for Neonatal hypoglycemia by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14682
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_000525.4(KCNJ11):c.103T>C (p.Phe35Leu) rs193929333
NM_000525.4(KCNJ11):c.158G>A (p.Gly53Asp) rs80356615
NM_000525.4(KCNJ11):c.521C>A (p.Ala174Asp) rs587783670
NM_000525.4(KCNJ11):c.536A>C (p.Glu179Ala) rs587783671
NM_000525.4(KCNJ11):c.997T>A (p.Phe333Ile) rs193929357

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