ClinVar Miner

List of variants studied for congenital isolated hyperinsulinism by Baylor Genetics

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_005327.7(HADH):c.349G>C (p.Val117Leu) rs146732064 0.00035
NM_005327.7(HADH):c.676T>C (p.Tyr226His) rs146036912 0.00010
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser) rs373705613 0.00006
NM_005327.7(HADH):c.907G>A (p.Gly303Ser) rs201772964 0.00004
NM_005327.7(HADH):c.706C>T (p.Arg236Ter) rs375717077 0.00003
NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn) rs767123465 0.00001
NM_000162.5(GCK):c.1155del (p.Leu386fs) rs1400535021
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) rs104894010
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.692A>T (p.Asn231Ile)
NM_000352.6(ABCC8):c.1630+5G>T rs1956364777
NM_005271.5(GLUD1):c.839T>C (p.Ile280Thr) rs1845968579
NM_005327.7(HADH):c.130C>T (p.Gln44Ter)
NM_005327.7(HADH):c.262-2A>G
NM_005327.7(HADH):c.419+1G>A
NM_005327.7(HADH):c.419+1G>C
NM_005327.7(HADH):c.424dup (p.Thr142fs)
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504
NM_005327.7(HADH):c.709+2T>C

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