ClinVar Miner

Variants with conflicting interpretations "likely benign" from Color Diagnostics, LLC DBA Color Health and "pathogenic" from any submitter

Minimum review status of the submission from Color Diagnostics, LLC DBA Color Health: Collection method of the submission from Color Diagnostics, LLC DBA Color Health:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233 0.00040
NM_000335.5(SCN5A):c.80G>A (p.Arg27His) rs199473045 0.00017
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile) rs140731590 0.00011
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00005
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys) rs551747280 0.00003
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter) rs765669597 0.00003
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met) rs745343524 0.00001
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)

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