ClinVar Miner

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

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Total variants with conflicting interpretations: 23
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HGVS dbSNP gnomAD frequency
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534 0.00573
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_000064.4(C3):c.4100T>C (p.Ile1367Thr) rs11569541 0.00226
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837 0.00216
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) rs148410446 0.00085
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys) rs75267647 0.00066
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_006904.7(PRKDC):c.3709G>A (p.Ala1237Thr) rs191531119 0.00059
NM_004517.4(ILK):c.157T>A (p.Leu53Met) rs200336608 0.00049
NM_000719.7(CACNA1C):c.5444G>C (p.Arg1815Thr) rs374425919 0.00033
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_020778.5(ALPK3):c.407C>T (p.Thr136Ile) rs56015306 0.00020
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) rs138879998 0.00011
NM_001267550.2(TTN):c.17183-7C>T rs371785683 0.00009
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met) rs74516571 0.00004
NM_002294.3(LAMP2):c.929-5T>C rs375341409 0.00004
NM_000257.4(MYH7):c.1632C>T (p.Thr544=) rs587781089 0.00003
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001563.4(IMPG1):c.1016C>A (p.Thr339Asn) rs112474181
NM_001854.4(COL11A1):c.1201T>C (p.Phe401Leu) rs141817156

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