ClinVar Miner

List of variants reported as uncertain significance for diazoxide-resistant focal hyperinsulinism by Counsyl

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 89
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HGVS dbSNP
NM_000352.4(ABCC8):c.4117_4119del (p.Lys1373del) rs1554905655
NM_000352.5(ABCC8):c.103C>T (p.Pro35Ser) rs1183465672
NM_000352.5(ABCC8):c.115_123del (p.Leu39_Phe41del) rs1554949238
NM_000352.5(ABCC8):c.119T>G (p.Leu40Arg) rs1554949242
NM_000352.5(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669
NM_000352.5(ABCC8):c.126_146dup (p.Thr43_Ile49dup) rs1554949190
NM_000352.5(ABCC8):c.145A>T (p.Ile49Phe) rs1554949196
NM_000352.5(ABCC8):c.1484G>A (p.Arg495Gln) rs1420601296
NM_000352.5(ABCC8):c.1585_1587del (p.Glu529del) rs1554933031
NM_000352.5(ABCC8):c.1672-20A>G
NM_000352.5(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708
NM_000352.5(ABCC8):c.1970G>A (p.Arg657Gln) rs755707550
NM_000352.5(ABCC8):c.2041-12C>A rs201419039
NM_000352.5(ABCC8):c.2041-25G>A rs1554924660
NM_000352.5(ABCC8):c.208G>C (p.Gly70Arg) rs764349043
NM_000352.5(ABCC8):c.2180T>G (p.Leu727Arg) rs1554924079
NM_000352.5(ABCC8):c.2222+15C>A rs377174421
NM_000352.5(ABCC8):c.2454_2456del (p.Asp818_Gln819delinsGlu) rs1554916621
NM_000352.5(ABCC8):c.250G>A (p.Val84Ile) rs775776658
NM_000352.5(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000352.5(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121
NM_000352.5(ABCC8):c.2694+3G>A rs1554914779
NM_000352.5(ABCC8):c.2694+4A>T rs1554914771
NM_000352.5(ABCC8):c.307C>T (p.His103Tyr) rs751209734
NM_000352.5(ABCC8):c.3088G>A (p.Asp1030Asn) rs1225850029
NM_000352.5(ABCC8):c.3243_3251del (p.Ser1082_Thr1084del) rs1271445653
NM_000352.5(ABCC8):c.3399+13G>A rs182340196
NM_000352.5(ABCC8):c.3470_3472del (p.Ser1157del) rs1554910736
NM_000352.5(ABCC8):c.3736T>C (p.Trp1246Arg) rs1554906790
NM_000352.5(ABCC8):c.3759_3767dup (p.Ile1254_Ala1256dup) rs1554906427
NM_000352.5(ABCC8):c.3763G>A (p.Gly1255Ser) rs1185034563
NM_000352.5(ABCC8):c.3788C>A (p.Ala1263Glu) rs772094360
NM_000352.5(ABCC8):c.3867+7G>A rs372198547
NM_000352.5(ABCC8):c.3905C>T (p.Ala1302Val) rs1340859533
NM_000352.5(ABCC8):c.3938G>A (p.Arg1313His) rs372153432
NM_000352.5(ABCC8):c.3989-3C>G rs1324242791
NM_000352.5(ABCC8):c.4008G>C (p.Lys1336Asn) rs67767715
NM_000352.5(ABCC8):c.4012T>A (p.Trp1338Arg) rs1554905805
NM_000352.5(ABCC8):c.403C>G (p.Leu135Val) rs368450282
NM_000352.5(ABCC8):c.4096G>A (p.Ala1366Thr) rs1554905695
NM_000352.5(ABCC8):c.4097C>A (p.Ala1366Asp) rs746811190
NM_000352.5(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.5(ABCC8):c.4135C>A (p.Arg1379Ser) rs137852673
NM_000352.5(ABCC8):c.4141G>A (p.Gly1381Ser) rs773448052
NM_000352.5(ABCC8):c.4178G>A (p.Arg1393His) rs769279368
NM_000352.5(ABCC8):c.4253G>T (p.Arg1418Leu) rs1446306735
NM_000352.5(ABCC8):c.4349T>C (p.Leu1450Pro) rs1554904565
NM_000352.5(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271
NM_000352.5(ABCC8):c.4446C>A (p.Ser1482Arg) rs1554904107
NM_000352.5(ABCC8):c.4456_4461del (p.Arg1486_Gln1487del) rs1554904088
NM_000352.5(ABCC8):c.4563G>C (p.Lys1521Asn) rs142272833
NM_000352.5(ABCC8):c.4607C>T (p.Ala1536Val) rs745918247
NM_000352.5(ABCC8):c.4608G>A (p.Ala1536=) rs1439464815
NM_000352.5(ABCC8):c.524T>A (p.Leu175Gln) rs1554943599
NM_000352.5(ABCC8):c.536A>G (p.Tyr179Cys) rs919281813
NM_000352.5(ABCC8):c.589_591TTC[1] (p.Phe198del) rs772409200
NM_000352.5(ABCC8):c.686C>T (p.Thr229Ile) rs768017509
NM_000352.5(ABCC8):c.691T>C (p.Trp231Arg) rs1554942704
NM_000352.5(ABCC8):c.823-7T>A rs1554942148
NM_000352.5(ABCC8):c.824G>A (p.Arg275Gln) rs185040406
NM_000352.5(ABCC8):c.886G>A (p.Gly296Arg) rs148529020
NM_000352.5(ABCC8):c.917G>A (p.Arg306His) rs1409900082
NM_000352.5(ABCC8):c.926C>G (p.Ala309Gly) rs149347593
NM_000352.5(ABCC8):c.97G>T (p.Val33Leu) rs768372267
NM_000525.3(KCNJ11):c.-135_-134insCT rs1554901983
NM_000525.3(KCNJ11):c.-54C>T rs1016780684
NM_000525.3(KCNJ11):c.1016T>G (p.Val339Gly) rs138125678
NM_000525.3(KCNJ11):c.1040G>A (p.Arg347His) rs771797701
NM_000525.3(KCNJ11):c.1093C>T (p.Arg365Cys) rs758749160
NM_000525.3(KCNJ11):c.1094G>A (p.Arg365His) rs750689750
NM_000525.3(KCNJ11):c.1112G>A (p.Arg371His) rs1233061680
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys) rs1440128889
NM_000525.3(KCNJ11):c.119G>A (p.Gly40Asp) rs1001873841
NM_000525.3(KCNJ11):c.264G>T (p.Met88Ile) rs1554901866
NM_000525.3(KCNJ11):c.292G>A (p.Gly98Ser) rs1554901851
NM_000525.3(KCNJ11):c.302C>A (p.Ala101Asp) rs1014454531
NM_000525.3(KCNJ11):c.407G>A (p.Arg136His) rs1479483693
NM_000525.3(KCNJ11):c.463G>A (p.Val155Met) rs587783668
NM_000525.3(KCNJ11):c.527G>A (p.Arg176His) rs1266231295
NM_000525.3(KCNJ11):c.575G>A (p.Arg192His) rs750778014
NM_000525.3(KCNJ11):c.584G>A (p.Arg195His) rs5217
NM_000525.3(KCNJ11):c.617G>T (p.Arg206Leu) rs1554901747
NM_000525.3(KCNJ11):c.662G>A (p.Arg221His) rs768909861
NM_000525.3(KCNJ11):c.797C>T (p.Pro266Leu) rs1554901679
NM_000525.3(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753
NM_000525.3(KCNJ11):c.80G>A (p.Arg27His) rs774714794
NM_000525.3(KCNJ11):c.841_843del (p.Leu281del) rs1554901658
NM_000525.3(KCNJ11):c.853G>A (p.Val285Ile) rs149667199
NM_000525.3(KCNJ11):c.970G>A (p.Gly324Arg) rs1193170151

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