ClinVar Miner

List of variants studied for Hyperinsulinemic hypoglycemia, familial, 4 by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005327.4(HADH):c.*818A>G rs17511319 0.03973
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_005327.7(HADH):c.*600C>T rs544321475 0.00077
NM_005327.7(HADH):c.*514A>G rs183594888 0.00020
NM_005327.7(HADH):c.*383G>C rs550706321 0.00001
NM_005327.7(HADH):c.*660_*661del
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504

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