List of variants reported as uncertain significance for congenital isolated hyperinsulinism by Invitae

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 94

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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.809C>T (p.Thr270Met)	rs577954688	0.00017
NM_005327.7(HADH):c.676T>C (p.Tyr226His)	rs146036912	0.00010
NM_005327.7(HADH):c.361G>A (p.Val121Met)	rs377615662	0.00006
NM_005327.7(HADH):c.820G>A (p.Val274Met)	rs543440046	0.00004
NM_005327.7(HADH):c.907G>A (p.Gly303Ser)	rs201772964	0.00004
NM_005327.7(HADH):c.908G>T (p.Gly303Val)	rs575378007	0.00004
NM_005271.5(GLUD1):c.1568G>A (p.Arg523His)	rs761933718	0.00003
NM_005327.7(HADH):c.325G>A (p.Val109Ile)	rs199810422	0.00003
NM_005327.7(HADH):c.47C>T (p.Ser16Phe)	rs374248298	0.00003
NM_005327.7(HADH):c.889G>A (p.Val297Ile)	rs376876153	0.00003
NM_005271.5(GLUD1):c.154C>A (p.His52Asn)	rs750420022	0.00002
NM_005327.7(HADH):c.34G>A (p.Val12Met)	rs139920805	0.00002
NM_005327.7(HADH):c.479C>T (p.Thr160Ile)	rs780252799	0.00002
NM_005327.7(HADH):c.757G>A (p.Gly253Ser)	rs749276908	0.00002
NM_005327.7(HADH):c.817A>G (p.Ile273Val)	rs1404810726	0.00002
NM_005327.7(HADH):c.863A>C (p.Gln288Pro)	rs751120678	0.00002
NM_005271.5(GLUD1):c.1181C>T (p.Pro394Leu)	rs777564388	0.00001
NM_005271.5(GLUD1):c.136G>A (p.Ala46Thr)	rs780956934	0.00001
NM_005271.5(GLUD1):c.646+3A>G	rs1846331910	0.00001
NM_005327.7(HADH):c.126T>G (p.Ile42Met)	rs1264862903	0.00001
NM_005327.7(HADH):c.266G>A (p.Gly89Asp)	rs1292646768	0.00001
NM_005327.7(HADH):c.280G>C (p.Glu94Gln)	rs1274785101	0.00001
NM_005327.7(HADH):c.283A>G (p.Lys95Glu)	rs536173298	0.00001
NM_005327.7(HADH):c.449C>T (p.Ser150Phe)	rs1735809175	0.00001
NM_005327.7(HADH):c.494G>A (p.Arg165Gln)	rs768880930	0.00001
NM_005327.7(HADH):c.707G>A (p.Arg236Gln)	rs748945961	0.00001
NM_005327.7(HADH):c.761A>G (p.Tyr254Cys)	rs771071992	0.00001
NC_000004.11:g.(?_108816710)_(108955513_?)dup
NC_000004.11:g.(?_108911069)_(108955533_?)dup
NC_000010.10:g.(?_88811508)_(88822612_?)dup
NC_000010.10:g.(?_88854062)_(88854526_?)del
NM_005271.5(GLUD1):c.1006A>G (p.Ser336Gly)
NM_005271.5(GLUD1):c.1078_1079insAGTCCATTCTGG (p.Leu359_Gly360insGluSerIleLeu)	rs1845910499
NM_005271.5(GLUD1):c.107A>G (p.Gln36Arg)
NM_005271.5(GLUD1):c.1132A>G (p.Ile378Val)	rs1589358775
NM_005271.5(GLUD1):c.1175A>G (p.Asn392Ser)
NM_005271.5(GLUD1):c.1197+5C>A
NM_005271.5(GLUD1):c.1198-11CT[2]	rs753448342
NM_005271.5(GLUD1):c.122_148del (p.Pro41_Ala49del)
NM_005271.5(GLUD1):c.1249T>A (p.Phe417Ile)	rs2133794123
NM_005271.5(GLUD1):c.1358G>A (p.Arg453His)
NM_005271.5(GLUD1):c.1442A>T (p.His481Leu)	rs1169592069
NM_005271.5(GLUD1):c.1466C>T (p.Pro489Leu)	rs2133788907
NM_005271.5(GLUD1):c.1479C>A (p.Phe493Leu)	rs2133788865
NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser)	rs121909733
NM_005271.5(GLUD1):c.1558-5T>A
NM_005271.5(GLUD1):c.1637T>C (p.Val546Ala)	rs2133773089
NM_005271.5(GLUD1):c.178C>A (p.Arg60Ser)
NM_005271.5(GLUD1):c.203A>G (p.Lys68Arg)
NM_005271.5(GLUD1):c.212A>C (p.Glu71Ala)
NM_005271.5(GLUD1):c.247G>A (p.Asp83Asn)
NM_005271.5(GLUD1):c.307C>G (p.Arg103Gly)
NM_005271.5(GLUD1):c.37C>T (p.Arg13Trp)
NM_005271.5(GLUD1):c.3G>A (p.Met1Ile)	rs1294286511
NM_005271.5(GLUD1):c.415C>T (p.His139Tyr)	rs2133873984
NM_005271.5(GLUD1):c.452G>C (p.Arg151Pro)	rs777627931
NM_005271.5(GLUD1):c.53C>T (p.Ala18Val)
NM_005271.5(GLUD1):c.655A>G (p.Ile219Val)
NM_005271.5(GLUD1):c.803G>A (p.Arg268His)
NM_005271.5(GLUD1):c.953G>A (p.Arg318Lys)	rs121909736
NM_005271.5(GLUD1):c.953G>C (p.Arg318Thr)	rs121909736
NM_005271.5(GLUD1):c.955T>A (p.Tyr319Asn)
NM_005271.5(GLUD1):c.962A>G (p.His321Arg)
NM_005327.7(HADH):c.100G>A (p.Gly34Ser)	rs779135938
NM_005327.7(HADH):c.106G>C (p.Gly36Arg)	rs994692222
NM_005327.7(HADH):c.134T>C (p.Val45Ala)
NM_005327.7(HADH):c.220C>T (p.Leu74Phe)	rs1735422340
NM_005327.7(HADH):c.235AAG[2] (p.Lys81del)	rs763318550
NM_005327.7(HADH):c.243G>T (p.Lys81Asn)
NM_005327.7(HADH):c.311C>T (p.Thr104Met)
NM_005327.7(HADH):c.316G>A (p.Ala106Thr)
NM_005327.7(HADH):c.32C>T (p.Ser11Phe)
NM_005327.7(HADH):c.380A>G (p.Lys127Arg)	rs1735626197
NM_005327.7(HADH):c.388C>T (p.Leu130Phe)
NM_005327.7(HADH):c.420A>T (p.Glu140Asp)
NM_005327.7(HADH):c.422A>G (p.His141Arg)
NM_005327.7(HADH):c.427A>G (p.Ile143Val)
NM_005327.7(HADH):c.443C>T (p.Thr148Ile)
NM_005327.7(HADH):c.497T>A (p.Phe166Tyr)
NM_005327.7(HADH):c.50C>T (p.Thr17Ile)
NM_005327.7(HADH):c.533T>A (p.Met178Lys)
NM_005327.7(HADH):c.643C>T (p.Pro215Ser)	rs140413151
NM_005327.7(HADH):c.705A>C (p.Glu235Asp)
NM_005327.7(HADH):c.715G>T (p.Ala239Ser)	rs746680125
NM_005327.7(HADH):c.725A>G (p.Glu242Gly)	rs1736337186
NM_005327.7(HADH):c.740C>T (p.Ala247Val)	rs1736337431
NM_005327.7(HADH):c.805A>G (p.Thr269Ala)	rs1736341112
NM_005327.7(HADH):c.806C>G (p.Thr269Ser)	rs754403207
NM_005327.7(HADH):c.825T>C (p.Asp275=)
NM_005327.7(HADH):c.832C>T (p.His278Tyr)
NM_005327.7(HADH):c.875C>T (p.Ser292Phe)
NM_005327.7(HADH):c.8T>C (p.Phe3Ser)	rs2126215379
NM_005327.7(HADH):c.906C>G (p.Phe302Leu)

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