ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and "likely pathogenic" from any submitter

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 103
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HGVS dbSNP
NM_000016.5(ACADM):c.1045C>T (p.Arg349Ter) rs148207467
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) rs121434281
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000141.4(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000151.4(G6PC):c.377_378TA[3] (p.Tyr128fs) rs80356488
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) rs121434370
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.727-2A>T rs386833664
NM_000314.7(PTEN):c.254-1G>A rs1057520208
NM_000335.4(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601
NM_000352.5(ABCC8):c.3640C>T (p.Arg1214Trp) rs139964066
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp) rs780990272
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007
NM_000492.3(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu) rs375628463
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001178007.1(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707
NM_001253816.1(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812
NM_001257342.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001360.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521
NM_003193.4(TBCE):c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del) rs767004810
NM_003239.4(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954
NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe) rs786205165
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006731.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_007055.4(POLR3A):c.1909+18G>A rs267608677
NM_007055.4(POLR3A):c.1909+22G>A rs191875469
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_014080.4(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283
NM_014874.3(MFN2):c.647T>C (p.Phe216Ser) rs387906990
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_019109.4(ALG1):c.773C>T (p.Ser258Leu) rs28939378
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640
NM_080877.2(SLC34A3):c.448+1G>A rs150841256
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) rs587778771
NM_153704.5(TMEM67):c.579_580del (p.Gly195fs) rs386834202
NM_174917.5(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152

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