ClinVar Miner

Variants with conflicting interpretations "pathogenic" from LDLR-LOVD, British Heart Foundation and "likely pathogenic" from any submitter

Minimum review status of the submission from LDLR-LOVD, British Heart Foundation: Collection method of the submission from LDLR-LOVD, British Heart Foundation:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 46
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.1846-1G>A rs879255051 0.00001
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter) rs869320652 0.00001
NM_000527.4(LDLR):c.190+2_190+3dup
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.5(LDLR):c.1045del (p.Gln349fs) rs879254765
NM_000527.5(LDLR):c.1056C>A (p.Cys352Ter) rs13306515
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
NM_000527.5(LDLR):c.1186+5G>A rs879254821
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1206_1207del (p.Phe403fs) rs879254829
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs) rs879254892
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.1486_1487del (p.Gly496fs) rs869025454
NM_000527.5(LDLR):c.1496_1497del (p.Ser499fs) rs879254922
NM_000527.5(LDLR):c.1586+1G>A
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter) rs879254985
NM_000527.5(LDLR):c.1813C>T (p.Leu605=) rs879255031
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter) rs760436036
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2092del (p.Cys698fs) rs879255135
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.230del (p.Gly77fs) rs879254440
NM_000527.5(LDLR):c.2397_2412del (p.Val800fs) rs879255197
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter) rs377437226
NM_000527.5(LDLR):c.313_313+1del rs875989896
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.519C>A (p.Cys173Ter) rs769318035
NM_000527.5(LDLR):c.539G>A (p.Trp180Ter) rs879254569
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.622G>T (p.Glu208Ter) rs879254597
NM_000527.5(LDLR):c.648dup (p.Asp217Ter) rs875989903
NM_000527.5(LDLR):c.653del (p.Gly218fs) rs137853966
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
NM_000527.5(LDLR):c.82G>T (p.Glu28Ter) rs551747280
NM_000527.5(LDLR):c.865del (p.Cys289fs) rs879254696

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