ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Baylor Genetics and "likely pathogenic" from PreventionGenetics, part of Exact Sciences

Minimum review status of the submission from Baylor Genetics: Collection method of the submission from Baylor Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00052
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000466.3(PEX1):c.3208-1G>A rs1057517518 0.00001
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) rs267606708 0.00001
NM_000275.3(OCA2):c.2323G>A (p.Gly775Ser) rs774822330
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs) rs398123303
NM_000372.5(TYR):c.1184G>A (p.Ser395Asn) rs752344007
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971

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