ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge and "pathogenic" from any submitter

Minimum review status of the submission from Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge: Collection method of the submission from Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 44
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 0.00002
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148 0.00001
NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn) rs1382988295
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.-136C>T rs879254374
NM_000527.4(LDLR):c.-138del rs387906307
NM_000527.4(LDLR):c.190+2_190+3dup
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)
NM_000527.5(LDLR):c.137G>C (p.Cys46Ser) rs121908041
NM_000527.5(LDLR):c.139_144del (p.Asp47_Gly48del) rs387906301
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr) rs875989929
NM_000527.5(LDLR):c.1739C>T (p.Ser580Phe) rs934496989
NM_000527.5(LDLR):c.1744C>T (p.Leu582Phe) rs1131692216
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1813C>T (p.Leu605=) rs879255031
NM_000527.5(LDLR):c.1845+11C>G rs370245937
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.1A>C (p.Met1Leu) rs879254382
NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del) rs879255201
NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)
NM_000527.5(LDLR):c.326G>T (p.Cys109Phe) rs121908042
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile) rs879254524
NM_000527.5(LDLR):c.589T>C (p.Cys197Arg) rs730882085
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.691T>G (p.Cys231Gly) rs746091400
NM_000527.5(LDLR):c.818-3C>G rs886039831
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_174936.4(PCSK9):c.381T>A (p.Ser127Arg) rs28942111

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