List of variants reported as likely pathogenic for Maturity onset diabetes mellitus in young by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

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Total variants: 111

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HGVS	dbSNP	gnomAD frequency
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)	rs137853247	0.00076
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)	rs774637975	0.00002
NM_000545.8(HNF1A):c.1243G>A (p.Gly415Arg)	rs368683806	0.00001
NM_000545.8(HNF1A):c.50T>A (p.Leu17His)	rs1480672278	0.00001
NM_000162.5(GCK):c.1018A>G (p.Ser340Gly)	rs193922255
NM_000162.5(GCK):c.1020-1G>A	rs193922258
NM_000162.5(GCK):c.1030G>T (p.Asp344Tyr)	rs864321656
NM_000162.5(GCK):c.1031_1034dup (p.Lys346fs)	rs1583592247
NM_000162.5(GCK):c.103A>T (p.Arg35Ter)	rs193922259
NM_000162.5(GCK):c.1064T>C (p.Leu355Pro)	rs1583592156
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn)	rs1064793134
NM_000162.5(GCK):c.1124C>T (p.Ser375Phe)	rs193922263
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del)	rs1131691505
NM_000162.5(GCK):c.1144T>C (p.Cys382Arg)	rs1554334613
NM_000162.5(GCK):c.1148del (p.Ser383fs)	rs2096271597
NM_000162.5(GCK):c.1151C>T (p.Ala384Val)	rs1583591747
NM_000162.5(GCK):c.1163dup (p.Val389fs)	rs886042015
NM_000162.5(GCK):c.1235T>G (p.Val412Gly)	rs1554334539
NM_000162.5(GCK):c.1247A>C (p.His416Pro)	rs1583591303
NM_000162.5(GCK):c.1253+2T>G	rs1057524902
NM_000162.5(GCK):c.1255T>C (p.Phe419Leu)	rs1554334478
NM_000162.5(GCK):c.1289T>C (p.Leu430Pro)	rs193922277
NM_000162.5(GCK):c.148C>T (p.His50Tyr)	rs1562719705
NM_000162.5(GCK):c.148dup (p.His50fs)	rs886041690
NM_000162.5(GCK):c.291del (p.Gln98fs)	rs1562719029
NM_000162.5(GCK):c.295del (p.Trp99fs)	rs1554335752
NM_000162.5(GCK):c.317_333del (p.Gln106fs)	rs797045595
NM_000162.5(GCK):c.364-1G>A	rs1057521094
NM_000162.5(GCK):c.393del (p.Asp132fs)	rs193922295
NM_000162.5(GCK):c.431del (p.Leu144fs)	rs1064796410
NM_000162.5(GCK):c.440del (p.Gly147fs)	rs1554335585
NM_000162.5(GCK):c.46-2A>G	rs1554335966
NM_000162.5(GCK):c.466C>T (p.His156Tyr)	rs1562718043
NM_000162.5(GCK):c.483+2T>C	rs1554335564
NM_000162.5(GCK):c.483+2_483+16del	rs1583601110
NM_000162.5(GCK):c.491T>C (p.Leu164Pro)	rs2096278847
NM_000162.5(GCK):c.499T>G (p.Trp167Gly)	rs1481197092
NM_000162.5(GCK):c.666del (p.Gly223fs)	rs2096278285
NM_000162.5(GCK):c.678_679+2del	rs1554335391
NM_000162.5(GCK):c.679+1del	rs193922320
NM_000162.5(GCK):c.680-1G>A	rs1057524905
NM_000162.5(GCK):c.680-2A>G	rs1562715657
NM_000162.5(GCK):c.701A>G (p.Tyr234Cys)	rs1562715620
NM_000162.5(GCK):c.769T>C (p.Trp257Arg)	rs1554335135
NM_000162.5(GCK):c.779T>C (p.Phe260Ser)	rs193922330
NM_000162.5(GCK):c.833A>T (p.Asp278Val)	rs193922333
NM_000162.5(GCK):c.868G>A (p.Glu290Lys)	rs1487194256
NM_000162.5(GCK):c.883G>A (p.Gly295Ser)	rs1554334905
NM_000162.5(GCK):c.914T>G (p.Val305Gly)	rs2096273846
NM_000162.5(GCK):c.989T>C (p.Phe330Ser)	rs1554334872
NM_000162.5(GCK):c.995C>T (p.Thr332Met)	rs770231054
NM_000458.4(HNF1B):c.1006dup (p.His336fs)	rs1598840795
NM_000458.4(HNF1B):c.1009dup (p.His337fs)	rs1598840773
NM_000458.4(HNF1B):c.110dup (p.Asn38fs)	rs1598854747
NM_000458.4(HNF1B):c.121del (p.Gly40_Val41insTer)	rs1555833144
NM_000458.4(HNF1B):c.1235dup (p.Val413fs)	rs1598809747
NM_000458.4(HNF1B):c.1258dup (p.His420fs)	rs1598809697
NM_000458.4(HNF1B):c.1406_1413dup (p.Val472fs)	rs1598806177
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
NM_000458.4(HNF1B):c.345-1G>T
NM_000458.4(HNF1B):c.406dup (p.Gln136fs)	rs886041820
NM_000458.4(HNF1B):c.61dup (p.Val21fs)	rs2034124973
NM_000458.4(HNF1B):c.719_720dup (p.Ala241fs)	rs1598842886
NM_000458.4(HNF1B):c.840dup (p.Ser281fs)	rs1598841082
NM_000545.8(HNF1A):c.1129del (p.Leu377fs)	rs193922576
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs)	rs1593060890
NM_000545.8(HNF1A):c.1136del (p.Pro379fs)	rs1593060859
NM_000545.8(HNF1A):c.1137del (p.Val380fs)	rs1555212248
NM_000545.8(HNF1A):c.1139del (p.Val380fs)	rs1877113317
NM_000545.8(HNF1A):c.1140dup (p.Ser381fs)	rs1593060912
NM_000545.8(HNF1A):c.130del (p.Leu44fs)	rs193922578
NM_000545.8(HNF1A):c.1310-1G>A	rs1877168655
NM_000545.8(HNF1A):c.1359del (p.Ser454fs)	rs1555212359
NM_000545.8(HNF1A):c.142del (p.Glu48fs)	rs1566092470
NM_000545.8(HNF1A):c.1463_1473del (p.Pro488fs)	rs1877180449
NM_000545.8(HNF1A):c.1501+1G>A	rs1131692182
NM_000545.8(HNF1A):c.1541dup (p.His514fs)	rs1877293842
NM_000545.8(HNF1A):c.1624-2A>G	rs1877309778
NM_000545.8(HNF1A):c.169del (p.Leu57fs)	rs193922588
NM_000545.8(HNF1A):c.1747_1766del (p.Arg583fs)	rs1592898255
NM_000545.8(HNF1A):c.1768+1G>A	rs1877324101
NM_000545.8(HNF1A):c.1822_1829del (p.Ser608fs)	rs1555212749
NM_000545.8(HNF1A):c.313dup (p.Glu105fs)	rs193922594
NM_000545.8(HNF1A):c.326+2T>G	rs1555210478
NM_000545.8(HNF1A):c.327-3_327-1del	rs1593054210
NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys)	rs137853237
NM_000545.8(HNF1A):c.404A>C (p.Asp135Ala)	rs1876671395
NM_000545.8(HNF1A):c.4del (p.Val2fs)	rs1555260207
NM_000545.8(HNF1A):c.527-1G>A	rs1555211904
NM_000545.8(HNF1A):c.714-1G>A	rs1463923467
NM_000545.8(HNF1A):c.722_725dup (p.Ile242fs)	rs1555211975
NM_000545.8(HNF1A):c.731G>T (p.Arg244Ile)	rs193922602
NM_000545.8(HNF1A):c.748C>T (p.Gln250Ter)	rs1308016430
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met)	rs886039544
NM_000545.8(HNF1A):c.790G>T (p.Val264Phe)	rs193922604
NM_000545.8(HNF1A):c.794A>C (p.Tyr265Ser)	rs1555212006
NM_000545.8(HNF1A):c.803T>C (p.Phe268Ser)	rs193922605
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys)	rs1555212014
NM_000545.8(HNF1A):c.864_897del (p.Pro290fs)	rs1565885935
NM_000545.8(HNF1A):c.864del (p.Pro291fs)	rs762703502
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs)	rs1593058932
NM_033507.2(GCK):c.488del	rs1246464603
NM_175914.5(HNF4A):c.1052_1053dup (p.Leu352fs)	rs2063787705
NM_175914.5(HNF4A):c.224+1G>A	rs1600707958
NM_175914.5(HNF4A):c.224+2T>C	rs1057524790
NM_175914.5(HNF4A):c.224G>A (p.Arg75Lys)	rs1131692187
NM_175914.5(HNF4A):c.319+2T>C	rs1600710669
NM_175914.5(HNF4A):c.403C>T (p.Gln135Ter)	rs1555815158
NM_175914.5(HNF4A):c.427-1G>A	rs1568731279
NM_175914.5(HNF4A):c.498T>A (p.Cys166Ter)	rs1555815393
NM_175914.5(HNF4A):c.968del (p.Gln323fs)	rs1555817851

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