List of variants reported as likely pathogenic for congenital isolated hyperinsulinism by Fulgent Genetics, Fulgent Genetics

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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_000352.6(ABCC8):c.2041-21G>A	rs746714109	0.00004
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)	rs200670692	0.00004
NM_005327.7(HADH):c.262-2A>G	rs138521550	0.00004
NM_005327.7(HADH):c.907G>A (p.Gly303Ser)	rs201772964	0.00004
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)	rs769279368	0.00003
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)	rs751228166	0.00003
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys)	rs267607196	0.00003
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)	rs372307320	0.00002
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr)	rs761862121	0.00002
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)	rs377686759	0.00002
NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp)	rs1001873841	0.00002
NM_000352.6(ABCC8):c.1176+2T>C	rs750586210	0.00001
NM_000352.6(ABCC8):c.1177-1G>A	rs1167993548	0.00001
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe)	rs542947894	0.00001
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)	rs760062120	0.00001
NM_000352.6(ABCC8):c.1508T>C (p.Leu503Pro)	rs1554933168	0.00001
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys)	rs193922397	0.00001
NM_000352.6(ABCC8):c.1819G>A (p.Val607Met)	rs377405677	0.00001
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)	rs547150342	0.00001
NM_000352.6(ABCC8):c.2921-9G>A	rs757171524	0.00001
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)	rs2133711315	0.00001
NM_000352.6(ABCC8):c.3400-1G>A	rs576684889	0.00001
NM_000352.6(ABCC8):c.3868-1G>A	rs766431403	0.00001
NM_000352.6(ABCC8):c.3988+2T>C	rs745349258	0.00001
NM_000352.6(ABCC8):c.4177C>T (p.Arg1393Cys)	rs776610373	0.00001
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)	rs193922402	0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)	rs72559715	0.00001
NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys)	rs756823374	0.00001
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)	rs863225280	0.00001
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser)	rs1462559571	0.00001
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)	rs769569410	0.00001
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His)	rs141145502	0.00001
NM_000525.4(KCNJ11):c.154C>T (p.Gln52Ter)	rs879253757	0.00001
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys)	rs766891274	0.00001
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His)	rs1479483693	0.00001
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)	rs104894248	0.00001
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met)	rs780957825	0.00001
NM_000162.5(GCK):c.1142T>A (p.Met381Lys)	rs193922266
NM_000162.5(GCK):c.1234G>A (p.Val412Met)	rs2484495767
NM_000162.5(GCK):c.1241A>T (p.Lys414Met)
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)	rs1131691416
NM_000162.5(GCK):c.1340G>C (p.Arg447Pro)	rs1131691416
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)	rs193922283
NM_000162.5(GCK):c.1368del (p.Cys457fs)	rs2484491553
NM_000162.5(GCK):c.483+117T>C
NM_000162.5(GCK):c.629T>C (p.Met210Thr)	rs80356654
NM_000162.5(GCK):c.660C>A (p.Cys220Ter)	rs142952813
NM_000162.5(GCK):c.871A>T (p.Lys291Ter)	rs193922335
NM_000352.6(ABCC8):c.1333-1013A>G	rs980458021
NM_000352.6(ABCC8):c.1468-2A>G
NM_000352.6(ABCC8):c.148+1G>A	rs766312766
NM_000352.6(ABCC8):c.1647del (p.Ile550fs)	rs2133554613
NM_000352.6(ABCC8):c.1731del (p.Phe577fs)
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup)	rs757650373
NM_000352.6(ABCC8):c.1901del (p.Pro634fs)
NM_000352.6(ABCC8):c.1A>G (p.Met1Val)	rs2496931481
NM_000352.6(ABCC8):c.2004del (p.Ser669fs)	rs2496667722
NM_000352.6(ABCC8):c.2222+1G>A	rs1554923999
NM_000352.6(ABCC8):c.2245_2249del (p.Glu749fs)
NM_000352.6(ABCC8):c.2255+2T>C	rs1057516589
NM_000352.6(ABCC8):c.2291+1G>A	rs1160946320
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg)	rs797045208
NM_000352.6(ABCC8):c.2492del (p.Gly831fs)
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly)	rs1484689392
NM_000352.6(ABCC8):c.2662del (p.His888fs)
NM_000352.6(ABCC8):c.2689G>T (p.Asp897Tyr)	rs2496556981
NM_000352.6(ABCC8):c.290+2T>C	rs1554948310
NM_000352.6(ABCC8):c.2917G>T (p.Glu973Ter)
NM_000352.6(ABCC8):c.3009C>G (p.Tyr1003Ter)
NM_000352.6(ABCC8):c.3096_3097delinsAA (p.Trp1032_Leu1033delinsTer)
NM_000352.6(ABCC8):c.3124_3126delinsCAGCCAGGAACTG (p.Thr1042fs)	rs786204542
NM_000352.6(ABCC8):c.3162+1G>A
NM_000352.6(ABCC8):c.3261G>A (p.Trp1087Ter)
NM_000352.6(ABCC8):c.3399G>T (p.Gln1133His)
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs)	rs1263082097
NM_000352.6(ABCC8):c.3650+2T>C
NM_000352.6(ABCC8):c.3867+1G>A	rs2496469312
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)	rs28936370
NM_000352.6(ABCC8):c.4238C>T (p.Pro1413Leu)	rs1436692401
NM_000352.6(ABCC8):c.4288C>T (p.Leu1430Phe)
NM_000352.6(ABCC8):c.432_435dup (p.Ala146fs)
NM_000352.6(ABCC8):c.4349T>C (p.Leu1450Pro)	rs1554904565
NM_000352.6(ABCC8):c.4565del (p.Val1522fs)
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)	rs758231286
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter)	rs1411638309
NM_000352.6(ABCC8):c.4661G>T (p.Gly1554Val)	rs760494159
NM_000352.6(ABCC8):c.496C>T (p.Gln166Ter)	rs1591896370
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)	rs797045213
NM_000352.6(ABCC8):c.580-1G>C
NM_000525.4(KCNJ11):c.1030_1031del (p.Cys344fs)
NM_000525.4(KCNJ11):c.406C>A (p.Arg136Ser)	rs766891274
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met)	rs750414160
NM_000525.4(KCNJ11):c.901C>T (p.Arg301Cys)	rs377091338
NM_005327.7(HADH):c.132+1G>A

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