ClinVar Miner

List of variants reported as uncertain significance for type 2 diabetes mellitus by New York Genome Center

Included ClinVar conditions (37):
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ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_000236.3(LIPC):c.89-4G>A rs184587533 0.00184
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp) rs35155575 0.00151
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val) rs5397 0.00083
NM_006005.3(WFS1):c.2195G>A (p.Arg732His) rs149013740 0.00083
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) rs145210664 0.00076
NM_000236.3(LIPC):c.1226A>C (p.Asp409Ala) rs142036980 0.00071
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_000162.5(GCK):c.483+26C>A rs142668032 0.00048
NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr) rs144900514 0.00045
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00037
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys) rs150851401 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_001626.6(AKT2):c.623G>A (p.Arg208Lys) rs35817154 0.00029
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_001626.6(AKT2):c.212A>G (p.Asn71Ser) rs200272953 0.00028
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val) rs141193981 0.00022
NM_006005.3(WFS1):c.2266C>T (p.Arg756Cys) rs138127684 0.00022
NM_138711.6(PPARG):c.391-3C>T rs370830238 0.00017
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_000352.6(ABCC8):c.1457G>A (p.Arg486Gln) rs376080397 0.00007
NM_000545.8(HNF1A):c.341G>A (p.Arg114His) rs139016696 0.00007
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser) rs760256649 0.00006
NM_006005.3(WFS1):c.449C>T (p.Ala150Val) rs113651985 0.00006
NM_000236.3(LIPC):c.674G>A (p.Arg225Gln) rs575306493 0.00005
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln) rs202073574 0.00005
NM_006005.3(WFS1):c.1993A>C (p.Thr665Pro) rs369656458 0.00004
NM_002500.5(NEUROD1):c.964G>A (p.Ala322Thr) rs754458532 0.00003
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln) rs755707550 0.00002
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser) rs982085453 0.00002
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_006005.3(WFS1):c.176C>T (p.Ala59Val) rs71524365 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_000236.3(LIPC):c.1024G>A (p.Val342Ile)
NM_000236.3(LIPC):c.1031G>A (p.Arg344Gln)
NM_000236.3(LIPC):c.274-5C>T
NM_000236.3(LIPC):c.353G>A (p.Gly118Glu)
NM_000236.3(LIPC):c.377C>A (p.Ala126Asp)
NM_000236.3(LIPC):c.88+8C>A
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
NM_000458.4(HNF1B):c.11A>G (p.Lys4Arg)
NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr)
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del) rs544842497
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_005456.4(MAPK8IP1):c.1666+5T>C
NM_006005.3(WFS1):c.2101A>T (p.Thr701Ser)
NM_006005.3(WFS1):c.2385G>C (p.Glu795Asp) rs373310972
NM_006005.3(WFS1):c.631+4C>T rs377209257
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)

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