ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Division of Human Genetics, Children's Hospital of Philadelphia and "pathogenic" from any submitter

Minimum review status of the submission from Division of Human Genetics, Children's Hospital of Philadelphia: Collection method of the submission from Division of Human Genetics, Children's Hospital of Philadelphia:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 39
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs) rs587776588 0.00018
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701 0.00004
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000404.4(GLB1):c.245+1G>A rs778423653 0.00001
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs) rs1060499596
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs) rs1060499593
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) rs1060499606
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp) rs386834264
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln) rs1060499616
NM_003764.4(STX11):c.391C>T (p.Gln131Ter) rs794729649
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_012434.5(SLC17A5):c.409del (p.Met137fs) rs794729653
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter) rs1060499602
NM_152443.3(RDH12):c.63_66del (p.Ile22fs) rs794729650
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076

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