ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Iberoamerican FH Network and "benign" from any submitter

Minimum review status of the submission from Iberoamerican FH Network: Collection method of the submission from Iberoamerican FH Network:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_174936.4(PCSK9):c.720C>T (p.Gly240=) rs41297883 0.00500
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000527.5(LDLR):c.690C>T (p.Asn230=) rs879254643
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)

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