ClinVar Miner

List of variants reported as benign for diazoxide-sensitive diffuse hyperinsulinism by Invitae

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005327.7(HADH):c.257T>C (p.Leu86Pro) rs4956145 0.86661
NM_005327.7(HADH):c.257= (p.Leu86=) rs4956145 0.13339
NM_005271.5(GLUD1):c.942A>G (p.Leu314=) rs9421572 0.08685
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_005271.5(GLUD1):c.1060-10T>A rs17096421 0.03225
NM_005271.5(GLUD1):c.342T>C (p.His114=) rs142544510 0.01392
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928 0.00843
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887 0.00818
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_005271.5(GLUD1):c.909A>C (p.Thr303=) rs113997422 0.00222
NM_005271.5(GLUD1):c.1403-11T>C rs886047374 0.00015
NM_005327.7(HADH):c.133-15C>T rs190144364 0.00013
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337 0.00001
NM_005271.5(GLUD1):c.630A>G (p.Ala210=) rs368203417 0.00001
NM_005271.5(GLUD1):c.1198-9C>G rs201421730
NM_005271.5(GLUD1):c.1198-9C>T
NM_005271.5(GLUD1):c.1403-11dup rs550609501
NM_005271.5(GLUD1):c.1647G>A (p.Val549=) rs756484571
NM_005271.5(GLUD1):c.582+18A>G
NM_005271.5(GLUD1):c.646+16_646+17del rs201141455
NM_005271.5(GLUD1):c.647-5C>G rs201611802
NM_005327.7(HADH):c.261+16C>T rs71601073

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