ClinVar Miner

Variants with conflicting interpretations "likely benign" from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics and "benign" from Mayo Clinic Laboratories, Mayo Clinic

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: 16
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HGVS dbSNP gnomAD frequency
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser) rs116440799 0.01995
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly) rs4675887 0.00845
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126 0.00758
NM_001303.4(COX10):c.682C>T (p.Arg228Cys) rs114521946 0.00727
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_025150.5(TARS2):c.1034A>G (p.His345Arg) rs115390773 0.00560
NM_022445.4(TPK1):c.98G>A (p.Arg33His) rs77358162 0.00512
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup) rs41550117

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