ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel and "uncertain significance" from any submitter

Minimum review status of the submission from ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel: Collection method of the submission from ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 47
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00005
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys) rs193922568 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) rs770744861 0.00001
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys) rs730882078 0.00001
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly) rs767618089 0.00001
NC_000019.10:g.11089400C>A rs879254368
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1175G>A (p.Cys392Tyr) rs1060500986
NM_000527.5(LDLR):c.1186+5G>A rs879254821
NM_000527.5(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del) rs879254826
NM_000527.5(LDLR):c.1204TTC[1] (p.Phe403del) rs879254830
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg) rs879254851
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro) rs28942079
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.5(LDLR):c.1567G>C (p.Val523Leu) rs28942080
NM_000527.5(LDLR):c.1567G>T (p.Val523Leu) rs28942080
NM_000527.5(LDLR):c.1618G>T (p.Ala540Ser) rs769370816
NM_000527.5(LDLR):c.1721G>A (p.Arg574His) rs777188764
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly) rs879255139
NM_000527.5(LDLR):c.2119G>T (p.Asp707Tyr) rs879255142
NM_000527.5(LDLR):c.2397_2412del (p.Val800fs) rs879255197
NM_000527.5(LDLR):c.2473A>G (p.Asn825Asp) rs879255215
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.5(LDLR):c.2T>C (p.Met1Thr) rs1555800701
NM_000527.5(LDLR):c.311G>T (p.Cys104Phe) rs875989895
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro) rs879254390
NM_000527.5(LDLR):c.510C>A (p.Asp170Glu) rs1060499931
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg) rs879254659
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.865T>C (p.Cys289Arg) rs879254697
NM_000527.5(LDLR):c.937T>C (p.Cys313Arg) rs879254728
NM_000527.5(LDLR):c.941-12G>A rs879254734

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