Variants with conflicting interpretations "likely pathogenic" from Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix and "pathogenic" from Invitae

Minimum review status of the submission from Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix:		Collection method of the submission from Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 91

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser)	rs373869746	0.00006
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)	rs376459828	0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)	rs139043155	0.00004
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn)	rs879254554	0.00003
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)	rs137943601	0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)	rs879254867	0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)	rs730882106	0.00001
NM_000527.5(LDLR):c.1845G>A (p.Glu615=)	rs879255047	0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)	rs730882110	0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn)	rs762815611	0.00001
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter)	rs1057516127	0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)	rs121908025	0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)	rs144172724	0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)	rs200727689	0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)	rs121908033	0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)	rs875989907	0.00001
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.694+2T>C	rs200238879
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1045del (p.Gln349fs)	rs879254765
NM_000527.5(LDLR):c.1056C>A (p.Cys352Ter)	rs13306515
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr)	rs875989915
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys)	rs879254800
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr)	rs879254849
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg)	rs730880130
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1586+1G>A
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg)	rs879254965
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)	rs397509365
NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala)	rs28942082
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg)	rs879255000
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro)	rs875989930
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1856T>C (p.Phe619Ser)	rs879255054
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr)	rs879255066
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)	rs794728584
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)	rs875989936
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)	rs28942083
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.244T>G (p.Cys82Gly)	rs879254447
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr)	rs875989895
NM_000527.5(LDLR):c.313+2dup	rs875989897
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg)	rs879254476
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg)	rs879254492
NM_000527.5(LDLR):c.416A>G (p.Asp139Gly)	rs879254518
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp)	rs879254520
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr)	rs879254522
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr)	rs879254526
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)	rs879254535
NM_000527.5(LDLR):c.464G>A (p.Cys155Tyr)	rs879254536
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.539G>A (p.Trp180Ter)	rs879254569
NM_000527.5(LDLR):c.550T>C (p.Cys184Arg)	rs879254572
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly)	rs730882085
NM_000527.5(LDLR):c.621C>T (p.Gly207=)	rs121908044
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr)	rs879254611
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)	rs121908027
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)	rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn)	rs387906303
NM_000527.5(LDLR):c.68-1G>A	rs879254397
NM_000527.5(LDLR):c.683A>G (p.Glu228Gly)	rs879254642
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)	rs879254667
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg)	rs879254692
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)	rs140241383
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr)	rs879254707
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)	rs875989909
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)	rs11547917
NM_000527.5(LDLR):c.941-2A>G	rs112366278
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)

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