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: 83
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093 0.00057
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00017
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_007059.4(KPTN):c.394+1G>A rs373139784 0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584 0.00006
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 0.00004
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer) rs767795266 0.00003
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu) rs121434281 0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088 0.00001
NM_000080.4(CHRNE):c.1033-1G>C rs755303686 0.00001
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser) rs1859965098 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter) rs773209126 0.00001
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001130144.3(LTBP3):c.3364C>T (p.Gln1122Ter) rs878853036 0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930 0.00001
NM_025074.7(FRAS1):c.2722+1G>A rs794727365 0.00001
NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter) rs1057520063
NM_000169.3(GLA):c.713G>A (p.Ser238Asn) rs730880450
NM_000310.4(PPT1):c.727-2A>T rs386833664
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro) rs121918004
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr) rs587776989
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001972.4(ELANE):c.170C>T (p.Ala57Val) rs1057520110
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup) rs587777148
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs) rs755184077
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152

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