ClinVar Miner

List of variants in gene NEUROD1 reported as uncertain significance for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_002500.5(NEUROD1):c.*164_*165del rs574102237 0.00115
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.750C>A (p.Ser250Arg) rs201293992 0.00023
NM_002500.5(NEUROD1):c.917C>T (p.Ala306Val) rs115159138 0.00022
NM_002500.5(NEUROD1):c.*548T>A rs886055324 0.00020
NM_002500.5(NEUROD1):c.*454C>T rs923588837 0.00018
NM_002500.5(NEUROD1):c.1031G>A (p.Arg344Gln) rs146389992 0.00018
NM_002500.4(NEUROD1):c.*1601C>A rs929497632 0.00011
NM_002500.5(NEUROD1):c.758T>C (p.Leu253Pro) rs147634094 0.00009
NM_002500.5(NEUROD1):c.646G>A (p.Val216Ile) rs755299574 0.00008
NM_002500.5(NEUROD1):c.1013G>C (p.Ser338Thr) rs767837260 0.00007
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.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.964G>A (p.Ala322Thr) rs754458532 0.00003
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.1055C>A (p.Ala352Asp) rs774325551 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.761A>C (p.Glu254Ala) rs767219230 0.00001
NM_002500.5(NEUROD1):c.79C>T (p.Leu27Phe) rs766645933 0.00001
NM_002500.5(NEUROD1):c.841G>T (p.Gly281Cys) rs1284904822 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.1040G>T (p.Ser347Ile)
NM_002500.5(NEUROD1):c.1055C>T (p.Ala352Val) rs774325551
NM_002500.5(NEUROD1):c.112A>G (p.Lys38Glu) rs1013787986
NM_002500.5(NEUROD1):c.129C>G (p.Leu43=) rs116321775
NM_002500.5(NEUROD1):c.175G>C (p.Glu59Gln) rs553756272
NM_002500.5(NEUROD1):c.222GGA[1] (p.Glu75del) rs1190828671
NM_002500.5(NEUROD1):c.260A>G (p.Lys87Arg) rs758515206
NM_002500.5(NEUROD1):c.284G>A (p.Arg95His) rs1559135426
NM_002500.5(NEUROD1):c.311T>G (p.Met104Arg) rs376752352
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.793A>C (p.Thr265Pro) rs761826783
NM_002500.5(NEUROD1):c.794C>G (p.Thr265Ser) rs1029071008
NM_002500.5(NEUROD1):c.908A>G (p.Tyr303Cys) rs886055327
NM_002500.5(NEUROD1):c.944G>C (p.Gly315Ala) rs1559135056
NM_002500.5(NEUROD1):c.94G>A (p.Glu32Lys) rs773755753

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