ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and "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: 39
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HGVS dbSNP
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987
NM_000165.5(GJA1):c.716G>A (p.Arg239Gln) rs764670582
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077
NM_000304.4(PMP22):c.245T>C (p.Leu82Pro) rs878853113
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs) rs796053505
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys) rs121918608
NM_001031681.2(CTNS):c.589G>A (p.Gly197Arg) rs113994207
NM_001042681.2(RERE):c.3146C>T (p.Pro1049Leu) rs878853011
NM_001128177.2(THRB):c.994G>A (p.Gly332Arg) rs28999969
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln) rs878853045
NM_001308211.1(EARS2):c.322C>T (p.Arg108Trp) rs376103091
NM_001370658.1(BTD):c.399G>A (p.Glu133=) rs397514360
NM_001673.5(ASNS):c.728T>C (p.Val243Ala) rs148111963
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_002693.2(POLG):c.911T>G (p.Leu304Arg) rs121918044
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923
NM_013275.6(ANKRD11):c.2171_2174CAAA[1] (p.Asn725fs) rs886039734
NM_014749.5(KIAA0586):c.94dup (p.His32fs) rs555421894
NM_016335.5(PRODH):c.1322T>C (p.Leu441Pro) rs2904551
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_020785.2(CC2D2A):c.100C>T (p.Arg34Ter) rs896947430
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) rs387906917
NM_031885.4(BBS2):c.1864C>T (p.Arg622Ter) rs201196733
NM_033407.3(DOCK7):c.1285C>T (p.Arg429Ter) rs1057520100
NM_133645.3(MTO1):c.1505G>A (p.Arg502His) rs201544686
NM_145207.3(SPATA5):c.983_985CAA[2] (p.Thr330del) rs796052243
NM_153818.1(PEX10):c.338del (p.Leu113fs) rs878853044
NM_172107.3(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220
NM_203447.3(DOCK8):c.54-1G>T rs192864327

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