ClinVar Miner

List of variants studied for monogenic diabetes by New York Genome Center

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp) rs35155575 0.00151
NM_001042413.2(GLIS3):c.496C>G (p.Pro166Ala) rs141467694 0.00147
NM_001042413.2(GLIS3):c.1872C>T (p.Thr624=) rs140309338 0.00068
NM_001366110.1(PAX4):c.1013C>T (p.Ala338Val) rs2233583 0.00062
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_000207.3(INS):c.227G>A (p.Ser76Asn) rs139264769 0.00050
NM_000162.5(GCK):c.483+26C>A rs142668032 0.00048
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00037
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_001042413.2(GLIS3):c.1200C>G (p.His400Gln) rs374943049 0.00026
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val) rs141193981 0.00022
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00019
NM_000352.6(ABCC8):c.823-8C>T rs201000679 0.00014
NM_001042413.2(GLIS3):c.2339G>A (p.Arg780Gln) rs200694226 0.00013
NM_178161.3(PTF1A):c.44C>T (p.Ala15Val) rs140097468 0.00012
NM_000162.5(GCK):c.649G>A (p.Asp217Asn) rs147065275 0.00011
NM_000162.5(GCK):c.666C>T (p.Val222=) rs193922318 0.00011
NM_000525.4(KCNJ11):c.302C>A (p.Ala101Asp) rs1014454531 0.00011
NM_001807.6(CEL):c.358G>A (p.Val120Ile) rs201336247 0.00011
NM_000545.8(HNF1A):c.341G>A (p.Arg114His) rs139016696 0.00007
NM_001042413.2(GLIS3):c.2494A>G (p.Lys832Glu) rs779354091 0.00006
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln) rs202073574 0.00005
NM_002500.5(NEUROD1):c.964G>A (p.Ala322Thr) rs754458532 0.00003
NM_001807.6(CEL):c.895+2dup rs1027973097 0.00002
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000207.3(INS):c.25C>T (p.Pro9Ser) rs372122432 0.00001
NM_000209.4(PDX1):c.208G>A (p.Val70Met) rs1234749777 0.00001
NM_000545.8(HNF1A):c.1699G>A (p.Val567Ile) rs751368921 0.00001
NM_000162.5(GCK):c.278A>C (p.Glu93Ala)
NM_000162.5(GCK):c.835G>C (p.Glu279Gln) rs104894005
NM_000209.4(PDX1):c.107T>G (p.Leu36Arg) rs936861677
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala) rs192902098
NM_000352.6(ABCC8):c.2164C>T (p.Leu722Phe)
NM_000352.6(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr)
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del) rs544842497
NM_001042413.2(GLIS3):c.-98-4A>G
NM_001042413.2(GLIS3):c.122C>A (p.Ser41Ter)
NM_001042413.2(GLIS3):c.1710+59006G>A
NM_001042413.2(GLIS3):c.1710+80188T>A
NM_001042413.2(GLIS3):c.187C>T (p.Pro63Ser)
NM_001042413.2(GLIS3):c.389-58616G>C
NM_001042413.2(GLIS3):c.389-7364T>G
NM_001042413.2(GLIS3):c.491T>A (p.Ile164Asn)
NM_001042413.2(GLIS3):c.505A>G (p.Ser169Gly)
NM_001042413.2(GLIS3):c.709C>T (p.Leu237Phe)
NM_001109809.5(ZFP57):c.751C>T (p.Arg251Cys)
NM_001366110.1(PAX4):c.-101_-100+2del
NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys) rs112061448
NM_001366110.1(PAX4):c.454G>A (p.Val152Ile)
NM_001366110.1(PAX4):c.574_588del (p.Gly192_Asp196del)
NM_001366110.1(PAX4):c.677G>A (p.Arg226His)
NM_001366110.1(PAX4):c.779dup (p.Gly261fs) rs536677108
NM_001807.6(CEL):c.1410_1411delinsACTC (p.Thr471fs)
NM_001807.6(CEL):c.1427A>G (p.Gln476Arg)
NM_001807.6(CEL):c.341-83C>T
NM_001807.6(CEL):c.472G>A (p.Val158Met)
NM_175914.5(HNF4A):c.50-4589G>A
NM_175914.5(HNF4A):c.643A>G (p.Met215Val)
NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg)
NM_178161.3(PTF1A):c.673T>G (p.Leu225Val)
NM_178161.3(PTF1A):c.703_720del (p.Gly235_Gly240del)
NM_178161.3(PTF1A):c.8C>T (p.Ala3Val) rs146089816
NM_178161.3(PTF1A):c.987A>G (p.Ter329Trp)
Single allele

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