ClinVar Miner

List of variants reported as likely pathogenic for Type 2 diabetes mellitus

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Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp) rs137852672 0.00022
NM_006005.3(WFS1):c.1759C>T (p.Arg587Trp) rs138968466 0.00009
NM_000352.6(ABCC8):c.2041-21G>A rs746714109 0.00004
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676 0.00004
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln) rs1420601296 0.00003
NM_000352.6(ABCC8):c.2921-9G>A rs757171524 0.00003
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368 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.4297G>A (p.Gly1433Ser) rs781090024 0.00002
NM_000236.3(LIPC):c.193C>T (p.Arg65Ter) rs369262181 0.00001
NM_000352.6(ABCC8):c.1508T>C (p.Leu503Pro) rs1554933168 0.00001
NM_000352.6(ABCC8):c.1671+1G>C rs1057516509 0.00001
NM_000352.6(ABCC8):c.3651-1G>C rs768820409 0.00001
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln) rs746480424 0.00001
NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=) rs1439464815 0.00001
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile) rs768017509 0.00001
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn) rs769569410 0.00001
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys) rs954727530 0.00001
NM_000525.4(KCNJ11):c.160C>T (p.Arg54Cys) rs375848765 0.00001
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His) rs1479483693 0.00001
NM_000525.4(KCNJ11):c.761C>T (p.Pro254Leu) rs104894237 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.1154G>A (p.Gly385Glu) rs2096271537
NM_000162.5(GCK):c.1155del (p.Leu386fs) rs1400535021
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) rs104894010
NM_000352.6(ABCC8):c.131dup (p.Ile46fs)
NM_000352.6(ABCC8):c.148+2T>C rs1554949176
NM_000352.6(ABCC8):c.149-2A>T
NM_000352.6(ABCC8):c.1672-20A>G rs931436550
NM_000352.6(ABCC8):c.1813del (p.Leu604_Val605insTer)
NM_000352.6(ABCC8):c.1817+1G>A
NM_000352.6(ABCC8):c.1914C>A (p.Tyr638Ter)
NM_000352.6(ABCC8):c.2040+1G>A
NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg) rs764349043
NM_000352.6(ABCC8):c.2140C>T (p.Gln714Ter)
NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser) rs80356634
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del) rs760520781
NM_000352.6(ABCC8):c.2236G>T (p.Glu746Ter) rs753296261
NM_000352.6(ABCC8):c.2252_2253dup (p.Ser752fs) rs2133487890
NM_000352.6(ABCC8):c.2255+2T>C rs1057516589
NM_000352.6(ABCC8):c.2256-1G>A
NM_000352.6(ABCC8):c.2305_2327del (p.Val769fs)
NM_000352.6(ABCC8):c.2388del (p.Gln796fs)
NM_000352.6(ABCC8):c.2497C>T (p.Gln833Ter)
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000352.6(ABCC8):c.2556_2556+15delinsCCTGGGGTCCTTGT
NM_000352.6(ABCC8):c.2557-2A>G
NM_000352.6(ABCC8):c.2654T>A (p.Leu885Ter)
NM_000352.6(ABCC8):c.2676C>G (p.Tyr892Ter)
NM_000352.6(ABCC8):c.2760_2770del (p.Glu920fs)
NM_000352.6(ABCC8):c.2791_2792del (p.Met931fs)
NM_000352.6(ABCC8):c.290+2del
NM_000352.6(ABCC8):c.3007dup (p.Tyr1003fs)
NM_000352.6(ABCC8):c.3162+2T>A
NM_000352.6(ABCC8):c.3231del (p.Cys1078fs)
NM_000352.6(ABCC8):c.3302del (p.Leu1101fs)
NM_000352.6(ABCC8):c.3329+1G>A
NM_000352.6(ABCC8):c.3330-1G>C
NM_000352.6(ABCC8):c.3336del (p.Phe1112fs)
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) rs2133711315
NM_000352.6(ABCC8):c.3399+1G>A rs1554911369
NM_000352.6(ABCC8):c.3440T>G (p.Leu1147Arg)
NM_000352.6(ABCC8):c.3452C>A (p.Ser1151Ter)
NM_000352.6(ABCC8):c.369_370dup (p.Tyr124fs) rs1554946437
NM_000352.6(ABCC8):c.3736T>C (p.Trp1246Arg) rs1554906790
NM_000352.6(ABCC8):c.3754-1G>A rs1554906449
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser) rs1185034563
NM_000352.6(ABCC8):c.3804del (p.Asn1269fs)
NM_000352.6(ABCC8):c.3827_3828del (p.Ser1276fs)
NM_000352.6(ABCC8):c.3941_3966del (p.Ile1314fs)
NM_000352.6(ABCC8):c.3989_3990insG (p.Pro1331fs)
NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His) rs28936370
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)
NM_000352.6(ABCC8):c.4119+1G>C
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.6(ABCC8):c.4177C>T (p.Arg1393Cys)
NM_000352.6(ABCC8):c.4181T>G (p.Met1394Arg)
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His)
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter) rs1057516404
NM_000352.6(ABCC8):c.4412-13G>A rs1008906426
NM_000352.6(ABCC8):c.4412-2A>C
NM_000352.6(ABCC8):c.4477del (p.Arg1493fs) rs1953791177
NM_000352.6(ABCC8):c.4544C>T (p.Thr1515Met) rs769989185
NM_000352.6(ABCC8):c.4545+2T>C
NM_000352.6(ABCC8):c.4549_4550del (p.Asn1517fs)
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter) rs758231286
NM_000352.6(ABCC8):c.494C>A (p.Ser165Ter) rs758754046
NM_000352.6(ABCC8):c.50T>C (p.Val17Ala) rs764950519
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.6(ABCC8):c.56del (p.Gln19fs) rs2133738006
NM_000352.6(ABCC8):c.579+2T>A rs1449198328
NM_000352.6(ABCC8):c.580-2A>T
NM_000352.6(ABCC8):c.580A>T (p.Arg194Ter)
NM_000352.6(ABCC8):c.585C>A (p.Tyr195Ter)
NM_000352.6(ABCC8):c.696G>A (p.Trp232Ter) rs2133679771
NM_000352.6(ABCC8):c.817del (p.Gln273fs) rs2133678848
NM_000352.6(ABCC8):c.822+2T>C
NM_000352.6(ABCC8):c.856dup (p.Ala286fs)
NM_000352.6(ABCC8):c.857_859delinsGCAT (p.Ala286fs)
NM_000352.6(ABCC8):c.864G>A (p.Trp288Ter)
NM_000352.6(ABCC8):c.984del (p.Lys329fs)
NM_000458.4(HNF1B):c.717dup (p.Pro240fs) rs1598842892
NM_000525.4(KCNJ11):c.165C>A (p.Phe55Leu)
NM_000525.4(KCNJ11):c.270G>A (p.Trp90Ter)
NM_000525.4(KCNJ11):c.286G>A (p.Ala96Thr)
NM_000525.4(KCNJ11):c.368del (p.Phe123fs)
NM_000525.4(KCNJ11):c.399del (p.Phe133fs)
NM_000525.4(KCNJ11):c.491_494dup (p.Cys166fs)
NM_000525.4(KCNJ11):c.637G>A (p.Ala213Thr)
NM_000525.4(KCNJ11):c.639del (p.Thr214fs)
NM_000525.4(KCNJ11):c.703C>T (p.Gln235Ter)
NM_000525.4(KCNJ11):c.718dup (p.Met240fs) rs1554901718
NM_000525.4(KCNJ11):c.808del (p.Leu270fs)
NM_000525.4(KCNJ11):c.816_829del (p.Ser273fs)
NM_000525.4(KCNJ11):c.844G>T (p.Glu282Ter)
NM_000525.4(KCNJ11):c.866G>C (p.Gly289Ala) rs797045637
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met) rs750414160
NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys) rs193929356
NM_000525.4(KCNJ11):c.991_992del (p.Ser331fs)
NM_000525.4(KCNJ11):c.993dup (p.Lys332fs)
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.43G>T (p.Ala15Ser) rs1265717222
NM_006208.3(ENPP1):c.1565+1G>T rs2114715547
NM_015874.6(RBPJ):c.154A>G (p.Arg52Gly) rs1553878211

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