List of variants in gene CLPP studied for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 160

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HGVS	dbSNP	gnomAD frequency
NM_006012.4(CLPP):c.661+107G>A	rs10418574	0.34349
NM_006012.4(CLPP):c.556-39A>G	rs10420388	0.34286
NM_006012.4(CLPP):c.662-301T>G	rs7251475	0.33904
NM_006012.4(CLPP):c.662-163T>C	rs7251613	0.33887
NM_006012.4(CLPP):c.367+171C>T	rs7253024	0.25954
NM_006012.4(CLPP):c.*153C>G	rs1049343	0.19061
NM_006012.4(CLPP):c.662-274G>A	rs7246979	0.15418
NC_000019.10:g.6361332G>A	rs9630895	0.11790
NC_000019.10:g.6361298A>G	rs144578559	0.11507
NM_006012.4(CLPP):c.556-120C>T	rs2860168	0.09866
NM_006012.4(CLPP):c.367+234C>T	rs62106648	0.09863
NM_006012.4(CLPP):c.-5G>A	rs75589928	0.05394
NC_000019.10:g.6361326A>T	rs562317565	0.05160
NC_000019.10:g.6361326_6361327insT	rs199809497	0.03641
NM_006012.4(CLPP):c.405G>A (p.Thr135=)	rs7260547	0.02865
NM_006012.4(CLPP):c.368-10C>T	rs8100489	0.02035
NM_006012.4(CLPP):c.555+246C>T	rs79332961	0.01406
NM_006012.4(CLPP):c.*234G>A	rs74796941	0.00991
NM_006012.4(CLPP):c.801G>A (p.Ala267=)	rs112620134	0.00987
NM_006012.4(CLPP):c.662-305T>C	rs150818871	0.00588
NM_006012.4(CLPP):c.368-8G>A	rs143053584	0.00583
NM_006012.4(CLPP):c.662-278G>A	rs111500124	0.00556
NM_006012.4(CLPP):c.661+119G>A	rs80237049	0.00537
NM_006012.4(CLPP):c.661+290T>G	rs143875178	0.00534
NM_006012.4(CLPP):c.367+148G>A	rs186930669	0.00341
NM_006012.4(CLPP):c.555+3G>A	rs200101759	0.00275
NM_006012.4(CLPP):c.*41G>A	rs116177459	0.00251
NM_006012.4(CLPP):c.399C>T (p.Tyr133=)	rs140025832	0.00096
NM_006012.4(CLPP):c.555+16G>A	rs74894429	0.00063
NM_006012.4(CLPP):c.666C>T (p.Ser222=)	rs140294009	0.00034
NM_006012.4(CLPP):c.117G>A (p.Gln39=)	rs114453881	0.00019
NM_006012.4(CLPP):c.556-43C>T	rs2304197	0.00018
NM_006012.4(CLPP):c.480C>T (p.Ala160=)	rs751283235	0.00016
NM_006012.4(CLPP):c.555+15C>T	rs371120549	0.00013
NM_006012.4(CLPP):c.661+41C>T	rs140139352	0.00013
NM_006012.4(CLPP):c.39G>A (p.Ala13=)	rs779446991	0.00012
NM_006012.4(CLPP):c.667G>A (p.Ala223Thr)	rs377653992	0.00011
NM_006012.4(CLPP):c.100C>T (p.Pro34Ser)	rs776759641	0.00010
NM_006012.4(CLPP):c.555+18G>A	rs377391107	0.00010
NM_006012.4(CLPP):c.369T>C (p.Gly123=)	rs750196166	0.00008
NM_006012.4(CLPP):c.271-10C>T	rs368153684	0.00007
NM_006012.4(CLPP):c.662-3C>T	rs761391026	0.00007
NM_006012.4(CLPP):c.340C>T (p.Pro114Ser)	rs771668786	0.00006
NM_006012.4(CLPP):c.382G>A (p.Ala128Thr)	rs746504569	0.00004
NM_006012.4(CLPP):c.507G>A (p.Ser169=)	rs145090711	0.00004
NM_006012.4(CLPP):c.306G>A (p.Gln102=)	rs375563974	0.00003
NM_006012.4(CLPP):c.622A>G (p.Ile208Val)	rs200070892	0.00003
NM_006012.4(CLPP):c.156G>A (p.Ala52=)	rs1238231671	0.00002
NM_006012.4(CLPP):c.15A>G (p.Ile5Met)	rs763687804	0.00002
NM_006012.4(CLPP):c.282C>T (p.Ser94=)	rs765531335	0.00002
NM_006012.4(CLPP):c.42A>C (p.Ser14=)	rs935069392	0.00002
NM_006012.4(CLPP):c.556-9G>A	rs191414755	0.00002
NM_006012.4(CLPP):c.771G>A (p.Thr257=)	rs762565051	0.00002
NM_006012.4(CLPP):c.127G>A (p.Ala43Thr)	rs1454742423	0.00001
NM_006012.4(CLPP):c.271-8A>T	rs111909281	0.00001
NM_006012.4(CLPP):c.497T>C (p.Met166Thr)	rs140102092	0.00001
NM_006012.4(CLPP):c.520C>T (p.Arg174Cys)	rs1244525711	0.00001
NM_006012.4(CLPP):c.549C>T (p.Gly183=)	rs566689450	0.00001
NM_006012.4(CLPP):c.598A>G (p.Lys200Glu)	rs1057519233	0.00001
NM_006012.4(CLPP):c.662-18C>T	rs1464468643	0.00001
NM_006012.4(CLPP):c.753C>T (p.Asp251=)	rs747747764	0.00001
NC_000019.10:g.6361144dup	rs149857333
NC_000019.10:g.6361330A>T	rs374203821
NC_000019.10:g.6361331del	rs559658294
NC_000019.10:g.6361331dup	rs559658294
NM_006012.4(CLPP):c.101C>T (p.Pro34Leu)
NM_006012.4(CLPP):c.113T>C (p.Leu38Pro)
NM_006012.4(CLPP):c.121G>C (p.Gly41Arg)	rs1163436990
NM_006012.4(CLPP):c.12_33dup (p.Val12fs)	rs2091833124
NM_006012.4(CLPP):c.137G>T (p.Arg46Leu)
NM_006012.4(CLPP):c.148G>A (p.Ala50Thr)
NM_006012.4(CLPP):c.159C>G (p.Thr53=)
NM_006012.4(CLPP):c.169C>G (p.Pro57Ala)
NM_006012.4(CLPP):c.173T>G (p.Leu58Arg)	rs980193170
NM_006012.4(CLPP):c.177T>A (p.Ile59=)
NM_006012.4(CLPP):c.182T>C (p.Ile61Thr)
NM_006012.4(CLPP):c.18G>A (p.Leu6=)
NM_006012.4(CLPP):c.21A>G (p.Val7=)
NM_006012.4(CLPP):c.21del (p.Ala10fs)
NM_006012.4(CLPP):c.23G>C (p.Gly8Ala)
NM_006012.4(CLPP):c.23G>T (p.Gly8Val)	rs1191663713
NM_006012.4(CLPP):c.270+161A>C	rs10416820
NM_006012.4(CLPP):c.273C>T (p.Ile91=)
NM_006012.4(CLPP):c.28G>T (p.Ala10Ser)	rs756769887
NM_006012.4(CLPP):c.29C>G (p.Ala10Gly)
NM_006012.4(CLPP):c.300C>T (p.Ile100=)
NM_006012.4(CLPP):c.30C>G (p.Ala10=)
NM_006012.4(CLPP):c.315C>T (p.Phe105=)
NM_006012.4(CLPP):c.321A>G (p.Gln107=)
NM_006012.4(CLPP):c.33G>A (p.Arg11=)
NM_006012.4(CLPP):c.342C>A (p.Pro114=)
NM_006012.4(CLPP):c.343A>T (p.Ile115Phe)
NM_006012.4(CLPP):c.360C>T (p.Asn120=)
NM_006012.4(CLPP):c.363C>T (p.Ser121=)
NM_006012.4(CLPP):c.367+11T>A
NM_006012.4(CLPP):c.367+16C>G
NM_006012.4(CLPP):c.367+17C>T
NM_006012.4(CLPP):c.367+2T>C	rs909909437
NM_006012.4(CLPP):c.368-173C>T	rs182248653
NM_006012.4(CLPP):c.368-179G>T	rs145182380
NM_006012.4(CLPP):c.368-297G>C	rs8113310
NM_006012.4(CLPP):c.368-2A>G
NM_006012.4(CLPP):c.368-43G>T	rs113114685
NM_006012.4(CLPP):c.368-44C>G	rs779555007
NM_006012.4(CLPP):c.368-97G>T	rs112436446
NM_006012.4(CLPP):c.372T>C (p.Gly124=)
NM_006012.4(CLPP):c.381C>T (p.Thr127=)
NM_006012.4(CLPP):c.384G>A (p.Ala128=)	rs376053962
NM_006012.4(CLPP):c.384G>C (p.Ala128=)
NM_006012.4(CLPP):c.384G>T (p.Ala128=)	rs376053962
NM_006012.4(CLPP):c.395T>C (p.Ile132Thr)
NM_006012.4(CLPP):c.39G>T (p.Ala13=)
NM_006012.4(CLPP):c.43T>C (p.Cys15Arg)
NM_006012.4(CLPP):c.441C>T (p.Cys147=)
NM_006012.4(CLPP):c.442G>A (p.Val148Met)	rs987500770
NM_006012.4(CLPP):c.491del (p.Pro164fs)	rs2145051196
NM_006012.4(CLPP):c.513C>A (p.Pro171=)
NM_006012.4(CLPP):c.521G>A (p.Arg174His)
NM_006012.4(CLPP):c.533A>G (p.His178Arg)
NM_006012.4(CLPP):c.553C>T (p.Arg185Trp)
NM_006012.4(CLPP):c.554G>T (p.Arg185Leu)
NM_006012.4(CLPP):c.555+106_555+107del	rs371513262
NM_006012.4(CLPP):c.555+107del	rs371513262
NM_006012.4(CLPP):c.555+107dup	rs371513262
NM_006012.4(CLPP):c.555+17C>T
NM_006012.4(CLPP):c.555+9C>G
NM_006012.4(CLPP):c.556-10C>T
NM_006012.4(CLPP):c.556-238_556-235del	rs201570658
NM_006012.4(CLPP):c.556-295del	rs56755865
NM_006012.4(CLPP):c.556-295dup	rs56755865
NM_006012.4(CLPP):c.556-2A>T	rs2145053028
NM_006012.4(CLPP):c.556-7C>T
NM_006012.4(CLPP):c.573T>C (p.Ile191=)
NM_006012.4(CLPP):c.585_586insAT (p.Glu196fs)
NM_006012.4(CLPP):c.595A>G (p.Met199Val)
NM_006012.4(CLPP):c.60G>A (p.Leu20=)
NM_006012.4(CLPP):c.617A>G (p.Tyr206Cys)
NM_006012.4(CLPP):c.627C>T (p.Tyr209=)
NM_006012.4(CLPP):c.660C>T (p.Ile220=)
NM_006012.4(CLPP):c.661+11T>G
NM_006012.4(CLPP):c.661G>A (p.Glu221Lys)
NM_006012.4(CLPP):c.683G>A (p.Arg228His)
NM_006012.4(CLPP):c.687C>T (p.Tyr229=)
NM_006012.4(CLPP):c.697A>G (p.Met233Val)
NM_006012.4(CLPP):c.708G>A (p.Gln236=)
NM_006012.4(CLPP):c.70C>T (p.Leu24Phe)
NM_006012.4(CLPP):c.711G>A (p.Glu237=)
NM_006012.4(CLPP):c.720C>G (p.Ile240Met)
NM_006012.4(CLPP):c.726C>T (p.Asp242=)
NM_006012.4(CLPP):c.729G>C (p.Lys243Asn)
NM_006012.4(CLPP):c.750G>A (p.Gln250=)
NM_006012.4(CLPP):c.754G>A (p.Gly252Ser)
NM_006012.4(CLPP):c.770C>T (p.Thr257Met)
NM_006012.4(CLPP):c.791T>C (p.Val264Ala)
NM_006012.4(CLPP):c.804G>A (p.Pro268=)
NM_006012.4(CLPP):c.828C>T (p.Ser276=)
NM_006012.4(CLPP):c.85C>T (p.Pro29Ser)
NM_006012.4(CLPP):c.93G>T (p.Gln31His)
NM_006012.4(CLPP):c.99G>A (p.Pro33=)
NM_006012.4(CLPP):c.9C>T (p.Pro3=)

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