ClinVar Miner

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

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: 35
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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.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_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.626A>G (p.Tyr209Cys) rs111033744
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372
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_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_000492.3(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.3(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001257342.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576
NM_001287174.2(ABCC8):c.3643C>T (p.Arg1215Trp) rs139964066
NM_001360.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521
NM_006731.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640

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