ClinVar Miner

List of variants in gene NEUROD1 studied for maturity-onset diabetes of the young

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_002500.5(NEUROD1):c.-73G>A rs2583016 0.69212
NM_002500.5(NEUROD1):c.133A>G (p.Thr45Ala) rs1801262 0.68693
NM_002500.5(NEUROD1):c.590C>A (p.Pro197His) rs8192556 0.01596
NM_002500.5(NEUROD1):c.-65C>T rs8192555 0.00721
NM_002500.5(NEUROD1):c.-60G>A rs189844846 0.00441
NM_002500.5(NEUROD1):c.*719G>A rs184299700 0.00423
NM_002500.5(NEUROD1):c.*78C>T rs41270211 0.00322
NM_002500.4(NEUROD1):c.*1595G>A rs187310461 0.00252
NM_002500.5(NEUROD1):c.*164_*165del rs574102237 0.00115
NM_002500.4(NEUROD1):c.*1555C>T rs192155087 0.00099
NM_002500.4(NEUROD1):c.*1339T>C rs17847284 0.00056
NM_002500.5(NEUROD1):c.*253A>G rs546609239 0.00050
NM_002500.5(NEUROD1):c.*1096T>C rs188774781 0.00038
NM_002500.5(NEUROD1):c.*283A>G rs535699215 0.00033
NM_002500.5(NEUROD1):c.777C>T (p.Ser259=) rs115027760 0.00031
NM_002500.5(NEUROD1):c.738G>A (p.Pro246=) rs115207271 0.00029
NM_002500.5(NEUROD1):c.750C>A (p.Ser250Arg) rs201293992 0.00023
NM_002500.5(NEUROD1):c.917C>T (p.Ala306Val) rs115159138 0.00021
NM_002500.5(NEUROD1):c.*548T>A rs886055324 0.00020
NM_002500.5(NEUROD1):c.1031G>A (p.Arg344Gln) rs146389992 0.00018
NM_002500.5(NEUROD1):c.195C>T (p.Asp65=) rs147643871 0.00013
NM_002500.4(NEUROD1):c.*1601C>A rs929497632 0.00011
NM_002500.5(NEUROD1):c.*1033T>G rs555224400 0.00011
NM_002500.5(NEUROD1):c.758T>C (p.Leu253Pro) rs147634094 0.00009
NM_002500.5(NEUROD1):c.*454C>T rs923588837 0.00008
NM_002500.5(NEUROD1):c.1013G>C (p.Ser338Thr) rs767837260 0.00007
NM_002500.5(NEUROD1):c.34G>C (p.Gly12Arg) rs556400603 0.00007
NM_002500.5(NEUROD1):c.646G>A (p.Val216Ile) rs755299574 0.00007
NM_002500.5(NEUROD1):c.*1A>G rs148104444 0.00006
NM_002500.5(NEUROD1):c.*907T>C rs747758950 0.00006
NM_002500.5(NEUROD1):c.*718C>T rs886055320 0.00004
NM_002500.5(NEUROD1):c.-81C>T rs567688779 0.00004
NM_002500.5(NEUROD1):c.175G>C (p.Glu59Gln) rs553756272 0.00004
NM_002500.5(NEUROD1):c.741C>A (p.His247Gln) rs201542440 0.00004
NM_002500.5(NEUROD1):c.746A>G (p.Tyr249Cys) rs780520468 0.00004
NM_002500.5(NEUROD1):c.751G>T (p.Ala251Ser) rs375390710 0.00004
NM_002500.5(NEUROD1):c.86C>G (p.Ser29Cys) rs138850469 0.00004
NM_002500.5(NEUROD1):c.973C>A (p.Arg325Ser) rs368727469 0.00004
NM_002500.5(NEUROD1):c.1050C>G (p.Leu350=) rs778703927 0.00003
NM_002500.5(NEUROD1):c.357G>A (p.Ala119=) rs375774931 0.00002
NM_002500.5(NEUROD1):c.964G>A (p.Ala322Thr) rs754458532 0.00002
NM_002500.4(NEUROD1):c.*1583T>C rs1035423254 0.00001
NM_002500.4(NEUROD1):c.-102G>A rs886055328 0.00001
NM_002500.5(NEUROD1):c.*370_*371insT rs886055326 0.00001
NM_002500.5(NEUROD1):c.*6C>A rs576676213 0.00001
NM_002500.5(NEUROD1):c.1040G>T (p.Ser347Ile) rs367986359 0.00001
NM_002500.5(NEUROD1):c.1043C>T (p.Ala348Val) rs771797718 0.00001
NM_002500.5(NEUROD1):c.1055C>A (p.Ala352Asp) rs774325551 0.00001
NM_002500.5(NEUROD1):c.112A>G (p.Lys38Glu) rs1013787986 0.00001
NM_002500.5(NEUROD1):c.36C>T (p.Gly12=) rs753690348 0.00001
NM_002500.5(NEUROD1):c.37G>A (p.Glu13Lys) rs763871039 0.00001
NM_002500.5(NEUROD1):c.418A>G (p.Ile140Val) rs369575066 0.00001
NM_002500.5(NEUROD1):c.473G>A (p.Arg158His) rs1422349580 0.00001
NM_002500.5(NEUROD1):c.554C>T (p.Ala185Val) rs375030401 0.00001
NM_002500.5(NEUROD1):c.61A>G (p.Ser21Gly) rs898716677 0.00001
NM_002500.5(NEUROD1):c.761A>C (p.Glu254Ala) rs767219230 0.00001
NM_002500.5(NEUROD1):c.766T>C (p.Phe256Leu) rs556602572 0.00001
NM_002500.5(NEUROD1):c.79C>T (p.Leu27Phe) rs766645933 0.00001
NM_002500.5(NEUROD1):c.814C>A (p.Pro272Thr) rs1365446719 0.00001
NM_002500.5(NEUROD1):c.841G>T (p.Gly281Cys) rs1284904822 0.00001
NM_002500.5(NEUROD1):c.908A>G (p.Tyr303Cys) rs886055327 0.00001
NM_002500.5(NEUROD1):c.931G>A (p.Ala311Thr) rs1475260624 0.00001
NM_002500.5(NEUROD1):c.93C>A (p.Asp31Glu) rs1688642769 0.00001
NM_002500.4(NEUROD1):c.*1486A>G rs1688569851
NM_002500.5(NEUROD1):c.*1125T>G rs1688578868
NM_002500.5(NEUROD1):c.*463del rs886055325
NM_002500.5(NEUROD1):c.*608T>C rs1688595150
NM_002500.5(NEUROD1):c.*617C>T rs886055323
NM_002500.5(NEUROD1):c.*640_*641dup rs886055322
NM_002500.5(NEUROD1):c.*642_*643del rs886055321
NM_002500.5(NEUROD1):c.*674_*677dup rs374172497
NM_002500.5(NEUROD1):c.*676_*677dup rs374172497
NM_002500.5(NEUROD1):c.*677dup rs374172497
NM_002500.5(NEUROD1):c.*75G>T rs1688606060
NM_002500.5(NEUROD1):c.*773A>C rs886055319
NM_002500.5(NEUROD1):c.*795T>C rs946367001
NM_002500.5(NEUROD1):c.*819C>G rs1688587199
NM_002500.5(NEUROD1):c.*859C>A rs752652027
NM_002500.5(NEUROD1):c.1019C>T (p.Ser340Leu)
NM_002500.5(NEUROD1):c.1055C>T (p.Ala352Val) rs774325551
NM_002500.5(NEUROD1):c.113A>G (p.Lys38Arg)
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=) rs116321775
NM_002500.5(NEUROD1):c.129C>G (p.Leu43=) rs116321775
NM_002500.5(NEUROD1):c.136A>G (p.Met46Val)
NM_002500.5(NEUROD1):c.189T>C (p.Asp63=) rs2105595687
NM_002500.5(NEUROD1):c.19G>A (p.Glu7Lys)
NM_002500.5(NEUROD1):c.205G>A (p.Glu69Lys)
NM_002500.5(NEUROD1):c.222GGA[1] (p.Glu75del) rs1190828671
NM_002500.5(NEUROD1):c.254G>A (p.Gly85Asp)
NM_002500.5(NEUROD1):c.260A>G (p.Lys87Arg) rs758515206
NM_002500.5(NEUROD1):c.278A>C (p.Lys93Thr)
NM_002500.5(NEUROD1):c.284G>A (p.Arg95His) rs1559135426
NM_002500.5(NEUROD1):c.29T>C (p.Leu10Pro) rs142156702
NM_002500.5(NEUROD1):c.301T>A (p.Leu101Met)
NM_002500.5(NEUROD1):c.309C>G (p.Arg103=) rs149703259
NM_002500.5(NEUROD1):c.310A>C (p.Met104Leu)
NM_002500.5(NEUROD1):c.311T>G (p.Met104Arg) rs376752352
NM_002500.5(NEUROD1):c.425C>G (p.Thr142Ser)
NM_002500.5(NEUROD1):c.451T>C (p.Trp151Arg)
NM_002500.5(NEUROD1):c.487C>T (p.Pro163Ser) rs1225264254
NM_002500.5(NEUROD1):c.542C>T (p.Thr181Ile)
NM_002500.5(NEUROD1):c.603G>C (p.Gln201His)
NM_002500.5(NEUROD1):c.614C>A (p.Pro205His) rs560115414
NM_002500.5(NEUROD1):c.616C>A (p.His206Asn) rs201174472
NM_002500.5(NEUROD1):c.616C>G (p.His206Asp) rs201174472
NM_002500.5(NEUROD1):c.616dup (p.His206fs) rs387906384
NM_002500.5(NEUROD1):c.620T>C (p.Leu207Pro) rs2468610018
NM_002500.5(NEUROD1):c.631A>G (p.Ser211Gly)
NM_002500.5(NEUROD1):c.714T>G (p.His238Gln) rs770828405
NM_002500.5(NEUROD1):c.715G>A (p.Val239Ile)
NM_002500.5(NEUROD1):c.722A>C (p.His241Pro)
NM_002500.5(NEUROD1):c.733C>A (p.Pro245Thr)
NM_002500.5(NEUROD1):c.790T>C (p.Cys264Arg)
NM_002500.5(NEUROD1):c.793A>C (p.Thr265Pro) rs761826783
NM_002500.5(NEUROD1):c.794C>G (p.Thr265Ser) rs1029071008
NM_002500.5(NEUROD1):c.827C>T (p.Pro276Leu)
NM_002500.5(NEUROD1):c.944G>C (p.Gly315Ala) rs1559135056
NM_002500.5(NEUROD1):c.94G>A (p.Glu32Lys) rs773755753
NM_002500.5(NEUROD1):c.950T>C (p.Ile317Thr)

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