ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Fundacion Hipercolesterolemia Familiar and "likely benign" from any submitter

Minimum review status of the submission from Fundacion Hipercolesterolemia Familiar: Collection method of the submission from Fundacion Hipercolesterolemia Familiar:
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
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.2853G>A (p.Glu951=) rs151193347
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu) rs879254976
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.5(LDLR):c.2360T>A (p.Val787Glu) rs879255182
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.941-39C>T

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