ClinVar Miner

List of variants reported as uncertain significance by Iberoamerican FH Network

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Total variants: 54
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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_000384.3(APOB):c.1470+15T>C rs185550846 0.00078
NM_000384.3(APOB):c.5599C>T (p.Arg1867Trp) rs200583769 0.00024
NM_000384.3(APOB):c.11354C>T (p.Thr3785Ile) rs143710616 0.00019
NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys) rs539080792 0.00016
NM_000384.3(APOB):c.11466G>A (p.Val3822=) rs755842633 0.00011
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.1078G>C (p.Asp360His) rs777926251 0.00004
NM_000384.3(APOB):c.10262T>C (p.Met3421Thr) rs755119833 0.00003
NM_174936.4(PCSK9):c.1432G>A (p.Ala478Thr) rs375582388 0.00003
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys) rs745721296 0.00001
NM_000384.3(APOB):c.1266A>G (p.Ser422=) rs752197838 0.00001
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_174936.4(PCSK9):c.1850C>A (p.Ala617Asp) rs754936553 0.00001
FH Bologna 2
GRCh37/hg19 19p13.2(chr19:11210898-11222316)x3
NM_000384.3(APOB):c.10163C>T (p.Thr3388Ile) rs1553383038
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
NM_000384.3(APOB):c.2184T>C (p.Asp728=) rs1325443043
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6979G>A (p.Asp2327Asn) rs1553383590
NM_000384.3(APOB):c.814_816del (p.Tyr272del) rs1553386960
NM_000527.4(LDLR):c.-135C>A rs879254375
NM_000527.4(LDLR):c.-140C>A
NM_000527.4(LDLR):c.-227G>C rs1555800612
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1186+5G>A rs879254821
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
NM_000527.5(LDLR):c.170A>C (p.Asp57Ala) rs1555802310
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1895A>T (p.Asn632Ile) rs1202258257
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.2231_2232delinsAG (p.Arg744Gln) rs1555808091
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr) rs879254457
NM_000527.5(LDLR):c.311G>T (p.Cys104Phe) rs875989895
NM_000527.5(LDLR):c.690C>T (p.Asn230=) rs879254643
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg) rs879254659
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.865T>C (p.Cys289Arg) rs879254697
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_174936.4(PCSK9):c.1480A>G (p.Lys494Glu) rs1553137710

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