ClinVar Miner

List of variants studied for autoimmune thyroid disease, susceptibility to, 3

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_003235.5(TG):c.3082A>G (p.Met1028Val) rs853326 0.60503
NC_000008.11:g.132865378A>G rs180195 0.58088
NM_003235.5(TG):c.5995C>T (p.Arg1999Trp) rs2076740 0.36874
NM_020863.4(ZFAT):c.2475+2472T>A rs16905194 0.20338
NM_003235.5(TG):c.3665C>T (p.Ser1222Leu) rs12549018 0.00195
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00070
NM_003235.5(TG):c.848G>A (p.Arg283Gln) rs146926250 0.00068
NM_003235.5(TG):c.455G>A (p.Arg152His) rs114781869 0.00059
NM_003235.5(TG):c.4481C>T (p.Pro1494Leu) rs146498231 0.00053
NM_003235.5(TG):c.6001G>A (p.Asp2001Asn) rs199923962 0.00037
NM_003235.5(TG):c.886C>T (p.Arg296Ter) rs121912648 0.00036
NM_003235.5(TG):c.993G>C (p.Gln331His) rs61745783 0.00027
NM_003235.5(TG):c.1020C>T (p.Asp340=) rs138114586 0.00020
NM_003235.5(TG):c.2560C>T (p.Arg854Trp) rs202196940 0.00016
NM_003235.5(TG):c.3149G>T (p.Trp1050Leu) rs142124591 0.00014
NM_003235.5(TG):c.4982G>A (p.Arg1661His) rs115509019 0.00013
NM_003235.5(TG):c.4588C>T (p.Arg1530Ter) rs121912646 0.00011
NM_003235.5(TG):c.4604A>G (p.Asp1535Gly) rs762221625 0.00006
NM_003235.5(TG):c.2762-4C>T rs372101475 0.00004
NM_003235.5(TG):c.5386C>T (p.Gln1796Ter) rs754658907 0.00004
NM_003235.5(TG):c.6695C>T (p.Pro2232Leu) rs201514086 0.00004
NM_003235.5(TG):c.2311C>T (p.Gln771Ter) rs778743706 0.00003
NM_003235.5(TG):c.416G>A (p.Trp139Ter) rs141306917 0.00003
NM_003235.5(TG):c.7123G>A (p.Gly2375Arg) rs137854434 0.00003
NM_003235.5(TG):c.1348del (p.Ser450fs) rs776553164 0.00002
NM_003235.5(TG):c.2359C>T (p.Arg787Ter) rs752966476 0.00002
NM_003235.5(TG):c.6782+1G>T rs1463437378 0.00002
NM_003235.5(TG):c.925A>G (p.Thr309Ala) rs199712883 0.00002
NM_003235.5(TG):c.1351C>T (p.Arg451Ter) rs773142559 0.00001
NM_003235.5(TG):c.274+2T>G rs1398373161 0.00001
NM_003235.5(TG):c.385G>A (p.Val129Ile) rs115677932 0.00001
NM_003235.5(TG):c.5182T>C (p.Cys1728Arg) rs376200169 0.00001
NM_003235.5(TG):c.638+5G>A rs774274702 0.00001
NM_003235.5(TG):c.6390T>G (p.Cys2130Trp) rs1304348679 0.00001
NM_003235.5(TG):c.6725G>A (p.Arg2242His) rs2069566 0.00001
NM_003235.5(TG):c.7007G>A (p.Arg2336Gln) rs121912650 0.00001
NM_020863.4(ZFAT):c.3653C>T (p.Ser1218Leu) rs1428157950 0.00001
NM_003235.5(TG):c.1042G>T (p.Gly348Ter)
NM_003235.5(TG):c.1072dup (p.Cys358fs)
NM_003235.5(TG):c.1076-1G>C rs1412480668
NM_003235.5(TG):c.115G>T (p.Glu39Ter)
NM_003235.5(TG):c.1425_1426dup (p.Phe476fs)
NM_003235.5(TG):c.1502dup (p.Gln502fs)
NM_003235.5(TG):c.1830_1831del (p.Gln610fs)
NM_003235.5(TG):c.1911G>A (p.Trp637Ter)
NM_003235.5(TG):c.2008C>T (p.Gln670Ter)
NM_003235.5(TG):c.213G>A (p.Trp71Ter)
NM_003235.5(TG):c.2200T>G (p.Ser734Ala) rs180223
NM_003235.5(TG):c.2266dup (p.Ser756fs)
NM_003235.5(TG):c.2443G>T (p.Gly815Ter) rs16904774
NM_003235.5(TG):c.2761+1G>T
NM_003235.5(TG):c.2898del (p.Asn967fs)
NM_003235.5(TG):c.2950G>T (p.Glu984Ter)
NM_003235.5(TG):c.3001+2T>C
NM_003235.5(TG):c.3040G>C (p.Asp1014His) rs114772213
NM_003235.5(TG):c.3231C>A (p.Cys1077Ter) rs142308887
NM_003235.5(TG):c.3331-2A>G
NM_003235.5(TG):c.3488del (p.Pro1163fs)
NM_003235.5(TG):c.3634+1G>A rs2490067471
NM_003235.5(TG):c.3871C>T (p.Gln1291Ter)
NM_003235.5(TG):c.4014del (p.Phe1338fs)
NM_003235.5(TG):c.4357del (p.Ser1453fs)
NM_003235.5(TG):c.4434delinsGA (p.Gly1479fs)
NM_003235.5(TG):c.4644del (p.Arg1549fs)
NM_003235.5(TG):c.4670_4671del (p.Glu1557fs)
NM_003235.5(TG):c.479-2A>G
NM_003235.5(TG):c.5184C>A (p.Cys1728Ter) rs199599591
NM_003235.5(TG):c.5367dup (p.Ile1790fs)
NM_003235.5(TG):c.5549-1_5556del
NM_003235.5(TG):c.6131G>T (p.Arg2044Leu) rs573866267
NM_003235.5(TG):c.6391_6394del (p.Leu2131fs)
NM_003235.5(TG):c.6562+1G>A
NM_003235.5(TG):c.6562+2T>A
NM_003235.5(TG):c.6562+2T>C
NM_003235.5(TG):c.6780_6782+13delinsTGGGATGCCTG
NM_003235.5(TG):c.6794G>A (p.Trp2265Ter)
NM_003235.5(TG):c.7036+2T>G
NM_003235.5(TG):c.7037-2del
NM_003235.5(TG):c.7363C>T (p.Arg2455Cys) rs201444172
NM_003235.5(TG):c.745+1_745+9delinsATC
NM_003235.5(TG):c.7588C>T (p.Arg2530Ter)
NM_003235.5(TG):c.773_774del (p.Ile257_Tyr258insTer)
NM_003235.5(TG):c.7863-1G>A rs998036326
NM_003235.5(TG):c.7955C>A (p.Ser2652Ter)
NM_003235.5(TG):c.961C>T (p.Arg321Ter) rs779043995
NM_020863.4(ZFAT):c.1199G>A (p.Arg400Gln) rs2488654636

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