ClinVar Miner

List of variants reported as not provided by GeneDx

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ClinVar version:
Total variants: 134
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HGVS dbSNP
NM_000038.6(APC):c.2444A>C (p.Asn815Thr) rs762990578
NM_000038.6(APC):c.4010_4013dup (p.Gln1338fs) rs1131691256
NM_000038.6(APC):c.5803del (p.Gln1935fs) rs1131691253
NM_000051.3(ATM):c.5784dup (p.Asn1929Ter) rs1131691254
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000214.3(JAG1):c.695-12T>A rs886039498
NM_000249.3(MLH1):c.1039-6A>T rs1131692027
NM_000251.2(MSH2):c.928del (p.Asn311fs) rs1064793179
NM_000256.3(MYBPC3):c.1168del (p.His390fs) rs397515889
NM_000256.3(MYBPC3):c.3027_3028AG[1] (p.Glu1010fs) rs730880665
NM_000256.3(MYBPC3):c.929A>G (p.Asp310Gly) rs1131692033
NM_000267.3(NF1):c.1342C>T (p.His448Tyr) rs1131691257
NM_000314.7(PTEN):c.40A>G (p.Arg14Gly) rs1085308047
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.4134_4136CAA[1] (p.Asn1379del) rs794728922
NM_000401.3(EXT2):c.1120C>A (p.Pro374Thr) rs1131691261
NM_001267550.2(TTN):c.10046C>T (p.Thr3349Ile) rs727503678
NM_001267550.2(TTN):c.100826G>A (p.Arg33609Gln) rs771243505
NM_001267550.2(TTN):c.101281C>T (p.Arg33761Trp) rs201421156
NM_001267550.2(TTN):c.105083C>T (p.Thr35028Met) rs56001826
NM_001267550.2(TTN):c.105407G>A (p.Arg35136Gln) rs554213990
NM_001267550.2(TTN):c.105482C>A (p.Thr35161Asn) rs372263729
NM_001267550.2(TTN):c.105590G>A (p.Gly35197Asp) rs397517796
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln) rs144531477
NM_001267550.2(TTN):c.107093T>C (p.Leu35698Pro) rs794729570
NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp) rs377401997
NM_001267550.2(TTN):c.11311+1135G>A rs149878929
NM_001267550.2(TTN):c.11311+1370G>A rs148115514
NM_001267550.2(TTN):c.11311+3440C>T rs72647901
NM_001267550.2(TTN):c.11311+4071A>G rs144539321
NM_001267550.2(TTN):c.11311+4338A>C rs139344272
NM_001267550.2(TTN):c.11311+4516C>T rs145996491
NM_001267550.2(TTN):c.11311+4583A>C rs139172299
NM_001267550.2(TTN):c.11311+5213A>G rs144905085
NM_001267550.2(TTN):c.11311+5530A>T rs72648909
NM_001267550.2(TTN):c.11311+5536A>G rs145581345
NM_001267550.2(TTN):c.11312-4404A>G rs372044281
NM_001267550.2(TTN):c.11546C>T (p.Pro3849Leu) rs727503662
NM_001267550.2(TTN):c.12113C>A (p.Thr4038Asn) rs758968807
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357
NM_001267550.2(TTN):c.20638G>A (p.Ala6880Thr) rs753356990
NM_001267550.2(TTN):c.2310G>T (p.Gln770His) rs541547610
NM_001267550.2(TTN):c.23353T>C (p.Cys7785Arg) rs371090975
NM_001267550.2(TTN):c.26464G>A (p.Ala8822Thr) rs184883436
NM_001267550.2(TTN):c.29183A>G (p.Asn9728Ser) rs374981132
NM_001267550.2(TTN):c.30220G>A (p.Glu10074Lys) rs794729402
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu) rs200952728
NM_001267550.2(TTN):c.32090C>T (p.Pro10697Leu) rs573756163
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln) rs200161147
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln) rs367720439
NM_001267550.2(TTN):c.33367G>A (p.Ala11123Thr) rs200321239
NM_001267550.2(TTN):c.3469G>A (p.Val1157Ile) rs397517566
NM_001267550.2(TTN):c.34954G>T (p.Val11652Leu) rs371752190
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala) rs150667217
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu) rs398124448
NM_001267550.2(TTN):c.38255C>T (p.Pro12752Leu) rs794729418
NM_001267550.2(TTN):c.38278G>A (p.Glu12760Lys) rs794729419
NM_001267550.2(TTN):c.3899A>G (p.Tyr1300Cys) rs188090472
NM_001267550.2(TTN):c.39703C>G (p.Pro13235Ala) rs747619468
NM_001267550.2(TTN):c.40576_40578GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.42434T>C (p.Met14145Thr) rs794729427
NM_001267550.2(TTN):c.44481_44483AGA[1] (p.Glu14828del) rs727505315
NM_001267550.2(TTN):c.45202_45204GAG[1] (p.Glu15069del) rs794729435
NM_001267550.2(TTN):c.46037G>A (p.Arg15346His) rs367996763
NM_001267550.2(TTN):c.47412G>T (p.Arg15804Ser) rs759143403
NM_001267550.2(TTN):c.48014C>G (p.Thr16005Arg) rs557711303
NM_001267550.2(TTN):c.49363A>G (p.Thr16455Ala) rs374543277
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val) rs750610895
NM_001267550.2(TTN):c.51704G>A (p.Arg17235Gln) rs573695008
NM_001267550.2(TTN):c.52891G>A (p.Val17631Ile) rs749503285
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu) rs185913848
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) rs201358641
NM_001267550.2(TTN):c.54812-14del rs770542364
NM_001267550.2(TTN):c.55915G>A (p.Val18639Met) rs727503596
NM_001267550.2(TTN):c.57508G>A (p.Gly19170Arg) rs750947988
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) rs191927501
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile) rs397517636
NM_001267550.2(TTN):c.5875T>A (p.Phe1959Ile) rs562856820
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu) rs750217838
NM_001267550.2(TTN):c.6041C>T (p.Thr2014Ile) rs189149543
NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr) rs558670891
NM_001267550.2(TTN):c.62306C>A (p.Pro20769Gln) rs772498581
NM_001267550.2(TTN):c.62425G>A (p.Ala20809Thr) rs532844402
NM_001267550.2(TTN):c.6462C>G (p.Ile2154Met) rs780879621
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala) rs140842479
NM_001267550.2(TTN):c.67282G>T (p.Val22428Leu) rs794729483
NM_001267550.2(TTN):c.67660G>C (p.Gly22554Arg) rs769525101
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) rs185620750
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser) rs370771532
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979
NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser) rs727503564
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp) rs540161344
NM_001267550.2(TTN):c.74185G>A (p.Ala24729Thr) rs372007344
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027
NM_001267550.2(TTN):c.76567_76568insAGA (p.Arg25523_Ala25524insLys) rs794729498
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) rs56372592
NM_001267550.2(TTN):c.77356_77357delinsAT (p.Ala25786Ile) rs794729503
NM_001267550.2(TTN):c.79213G>A (p.Val26405Ile) rs769972835
NM_001267550.2(TTN):c.79640G>A (p.Arg26547Gln) rs771534555
NM_001267550.2(TTN):c.79856G>A (p.Arg26619His) rs530507211
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) rs202149931
NM_001267550.2(TTN):c.81014_81016del (p.Ile27005del) rs794729509
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro) rs186273940
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) rs201490050
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly) rs201896662
NM_001267550.2(TTN):c.83279A>T (p.Asn27760Ile) rs200714263
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu) rs190721759
NM_001267550.2(TTN):c.86497_86498del (p.Ala28833fs) rs794729518
NM_001267550.2(TTN):c.86497_86498delinsTT (p.Ala28833Phe) rs794729519
NM_001267550.2(TTN):c.8843C>T (p.Ser2948Leu) rs397517763
NM_001267550.2(TTN):c.90104G>A (p.Arg30035His) rs199895320
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val) rs553668520
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903
NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu) rs762265902
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=) rs373206096
NM_001267550.2(TTN):c.99398A>C (p.Lys33133Thr) rs794729552
NM_001267550.2(TTN):c.99518G>A (p.Cys33173Tyr) rs761362832
NM_001271696.3(ABCB7):c.1589A>G (p.Tyr530Cys) rs199687417
NM_004415.4(DSP):c.1292dup (p.Tyr431Ter) rs786204293
NM_004415.4(DSP):c.8182dup (p.Glu2728fs) rs1554109187
NM_016156.5(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183
NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr) rs150615457
NM_172057.2(KCNH2):c.1837del (p.Leu613fs) rs794728503
NM_181798.1(KCNQ1):c.1511_1530del (p.Pro504fs) rs397508103
NM_181798.1(KCNQ1):c.379_387del (p.Val127_Phe129del) rs397508124

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