ClinVar Miner

List of variants in gene combination GLUD1, SHLD2 reported as likely benign for congenital isolated hyperinsulinism

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005271.5(GLUD1):c.195C>T (p.Asn65=) rs760817479 0.00011
NM_005271.5(GLUD1):c.168G>A (p.Ala56=) rs930453131 0.00001
NM_005271.5(GLUD1):c.200T>C (p.Phe67Ser) rs1401755923 0.00001
NM_005271.5(GLUD1):c.174C>A (p.Ala58=)
NM_005271.5(GLUD1):c.273C>T (p.Thr91=)
NM_005271.5(GLUD1):c.297G>C (p.Arg99=)

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