ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Blueprint Genetics and "pathogenic" from any submitter

Minimum review status of the submission from Blueprint Genetics: Collection method of the submission from Blueprint Genetics:
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Total variants with conflicting interpretations: 21
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621 0.00012
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_015426.5(POC1A):c.649C>T (p.Arg217Trp) rs372247136 0.00004
NM_000478.6(ALPL):c.657G>T (p.Met219Ile) rs776117933 0.00002
NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg) rs730880194 0.00001
NM_020778.5(ALPK3):c.4234C>T (p.Arg1412Ter) rs1431206462 0.00001
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys) rs777158800 0.00001
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys) rs137853136 0.00001
NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser) rs869025406
NM_000516.7(GNAS):c.349G>A (p.Val117Met) rs1555889031
NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val) rs1554033934
NM_005214.5(CTLA4):c.457G>A (p.Asp153Asn) rs1581573970
NM_006767.4(LZTR1):c.406T>C (p.Tyr136His) rs1601717299

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