ClinVar Miner

Variants with conflicting interpretations "uncertain significance" 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: 22
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261 0.00485
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00005
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772 0.00001
NM_000527.4(LDLR):c.-187_-185del rs1270618112
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1598G>A (p.Trp533Ter) rs746939188
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.5(LDLR):c.2397_2412del (p.Val800fs) rs879255197
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.5(LDLR):c.799G>A (p.Glu267Lys) rs879254679
NM_174936.4(PCSK9):c.644G>A (p.Arg215His) rs794728683
Single allele
c.(1186+1_1187-1)_(2140+1_2141-1)dup

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