ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel and "pathogenic" 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: 106
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln) rs5928 0.00113
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964 0.00046
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp) rs150673992 0.00044
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_000527.5(LDLR):c.185C>T (p.Thr62Met) rs376207800 0.00011
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile) rs140731590 0.00011
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu) rs201573863 0.00009
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00009
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122 0.00009
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln) rs200142970 0.00007
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_000527.5(LDLR):c.508G>A (p.Asp170Asn) rs139089530 0.00005
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00004
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr) rs141155833 0.00003
NM_000527.5(LDLR):c.1954A>G (p.Met652Val) rs730882111 0.00003
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696 0.00003
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser) rs750474121 0.00003
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys) rs551747280 0.00003
NM_000527.5(LDLR):c.1049G>A (p.Arg350Gln) rs875989914 0.00002
NM_000527.5(LDLR):c.1516G>A (p.Val506Met) rs373848925 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.-120C>T rs875989886 0.00001
NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr) rs1402951356 0.00001
NM_000527.5(LDLR):c.1186+5G>C rs879254821 0.00001
NM_000527.5(LDLR):c.1187G>A (p.Gly396Asp) rs766474188 0.00001
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) rs748554592 0.00001
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met) rs745343524 0.00001
NM_000527.5(LDLR):c.1367T>C (p.Leu456Pro) rs200143634 0.00001
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101 0.00001
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn) rs778284147 0.00001
NM_000527.5(LDLR):c.1435C>G (p.Leu479Val) rs1254928151 0.00001
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro) rs879254900 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000527.5(LDLR):c.1817C>A (p.Ala606Asp) rs1410295777 0.00001
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047 0.00001
NM_000527.5(LDLR):c.1943C>T (p.Ser648Phe) rs1555807266 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.1976C>A (p.Thr659Asn) rs879255094 0.00001
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro) rs193922570 0.00001
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg) rs766903209 0.00001
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294 0.00001
NM_000527.5(LDLR):c.2530G>A (p.Gly844Ser) rs1555809614 0.00001
NM_000527.5(LDLR):c.709C>T (p.Arg237Cys) rs879254657 0.00001
NM_000527.5(LDLR):c.731C>G (p.Ser244Cys) rs1208667598 0.00001
NM_000527.5(LDLR):c.853C>T (p.His285Tyr) rs730882091 0.00001
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser) rs375495026 0.00001
NM_000527.5(LDLR):c.889A>C (p.Asn297His) rs879254709 0.00001
NC_000019.10:g.11089393C>T rs879254364
NG_009060.1(LDLR):g.4976CTC[2] rs1270618112
NM_000527.5(LDLR):c.-142C>G rs879254370
NM_000527.5(LDLR):c.-188C>T rs878854023
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.5(LDLR):c.1070A>G (p.Glu357Gly) rs753248521
NM_000527.5(LDLR):c.1154T>C (p.Leu385Pro) rs879254809
NM_000527.5(LDLR):c.1186G>C (p.Gly396Arg) rs879254820
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys) rs368708058
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro) rs1555805237
NM_000527.5(LDLR):c.1322T>A (p.Ile441Asn) rs879254862
NM_000527.5(LDLR):c.1323C>G (p.Ile441Met) rs5933
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.5(LDLR):c.139G>C (p.Asp47His) rs778284147
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg) rs879254905
NM_000527.5(LDLR):c.1448G>T (p.Trp483Leu) rs875989921
NM_000527.5(LDLR):c.1449G>C (p.Trp483Cys) rs879254907
NM_000527.5(LDLR):c.1449G>T (p.Trp483Cys) rs879254907
NM_000527.5(LDLR):c.1555C>A (p.Pro519Thr) rs875989923
NM_000527.5(LDLR):c.1576C>A (p.Pro526Thr) rs730882106
NM_000527.5(LDLR):c.1577C>G (p.Pro526Arg) rs879254944
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.169G>A (p.Asp57Asn) rs879254420
NM_000527.5(LDLR):c.1731G>C (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1792A>C (p.Ile598Leu) rs879255023
NM_000527.5(LDLR):c.1793T>A (p.Ile598Asn) rs879255024
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1845+15C>A rs759867686
NM_000527.5(LDLR):c.188G>T (p.Cys63Phe) rs879254427
NM_000527.5(LDLR):c.1945C>T (p.Pro649Ser) rs879255080
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser) rs193922570
NM_000527.5(LDLR):c.2297C>T (p.Thr766Ile) rs879255173
NM_000527.5(LDLR):c.2389+5G>A rs879255191
NM_000527.5(LDLR):c.2407_2424dup (p.Cys803_Leu808dup) rs879255201
NM_000527.5(LDLR):c.2446A>C (p.Lys816Gln) rs879255213
NM_000527.5(LDLR):c.250C>T (p.Pro84Ser) rs879254449
NM_000527.5(LDLR):c.251C>G (p.Pro84Arg) rs875989892
NM_000527.5(LDLR):c.251C>T (p.Pro84Leu) rs875989892
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del) rs879254451
NM_000527.5(LDLR):c.259T>C (p.Trp87Arg) rs121908025
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.5(LDLR):c.300C>G (p.Asp100Glu) rs766709484
NM_000527.5(LDLR):c.305A>C (p.Gln102Pro) rs879254462
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr) rs879254541
NM_000527.5(LDLR):c.4G>A (p.Gly2Arg) rs5931
NM_000527.5(LDLR):c.666C>T (p.Cys222=) rs756613387
NM_000527.5(LDLR):c.737G>T (p.Gly246Val) rs879254661
NM_000527.5(LDLR):c.770G>C (p.Arg257Pro) rs757808215
NM_000527.5(LDLR):c.805G>A (p.Gly269Ser) rs1131692200
NM_000527.5(LDLR):c.910G>C (p.Asp304His) rs121908030
NM_000527.5(LDLR):c.911A>T (p.Asp304Val) rs1555803898
NM_000527.5(LDLR):c.914G>C (p.Trp305Ser) rs879254717
NM_000527.5(LDLR):c.915G>C (p.Trp305Cys) rs757252110
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) rs761765254

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