ClinVar Miner

Variants with conflicting interpretations "pathogenic" from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology and "uncertain significance" from any submitter

Minimum review status of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology: Collection method of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology:
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ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_004771.4(MMP20):c.954-2A>T rs140213840 0.00224
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln) rs140159323 0.00019
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs) rs1567053134
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341
NM_176869.3(PPA2):c.938C>A (p.Ser313Ter) rs151331559

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