List of variants in gene CLPB 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: 155

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HGVS	dbSNP	gnomAD frequency
NM_001258392.3(CLPB):c.456-4731G>T	rs4943891	0.79437
NM_001258392.3(CLPB):c.1786-176C>T	rs12793524	0.39577
NM_001258392.3(CLPB):c.775+50T>G	rs545388830	0.26318
NM_001258392.3(CLPB):c.1330-285C>G	rs474629	0.20258
NM_001258392.3(CLPB):c.1786-55A>G	rs680660	0.18047
NM_001258392.3(CLPB):c.874-346A>G	rs60024067	0.10300
NM_001258392.3(CLPB):c.1486+142G>A	rs590732	0.09940
NM_001258392.3(CLPB):c.840A>G (p.Glu280=)	rs36049191	0.09452
NM_001258392.3(CLPB):c.646+97A>G	rs3741162	0.07598
NM_001258392.3(CLPB):c.456-135C>A	rs74714550	0.04700
NM_030813.5(CLPB):c.-213C>T	rs74895347	0.03991
NM_001258392.3(CLPB):c.776-62G>C	rs59514150	0.03950
NM_001258392.3(CLPB):c.646+6968T>C	rs117652953	0.03005
NC_000011.10:g.72434676A>C	rs7950298	0.02998
NM_001258392.3(CLPB):c.988+145T>C	rs117954624	0.02885
NM_001258392.3(CLPB):c.1067-174G>A	rs118089225	0.02870
NM_001258392.3(CLPB):c.646+188del	rs144832068	0.02812
NM_001258392.3(CLPB):c.456-4841G>A	rs77293887	0.02255
NM_001258392.3(CLPB):c.543-290T>A	rs57936278	0.02014
NM_001258392.3(CLPB):c.1860C>T (p.Arg620=)	rs35401939	0.02006
NM_001258392.3(CLPB):c.775+45A>G	rs766699764	0.01985
NM_001258392.3(CLPB):c.794G>C (p.Arg265Thr)	rs7938203	0.01762
NM_001258392.3(CLPB):c.455+134G>T	rs75184960	0.01652
NM_001258392.3(CLPB):c.456-5456T>A	rs147128418	0.01649
NM_001258392.3(CLPB):c.1067-50C>T	rs74559788	0.01552
NM_001258392.3(CLPB):c.404-63C>T	rs116781967	0.01186
NM_001258392.3(CLPB):c.*65A>G	rs75570162	0.01136
NM_001258392.3(CLPB):c.*173G>C	rs79458542	0.01132
NM_001258392.3(CLPB):c.988+307C>T	rs115787576	0.01010
NM_001258392.3(CLPB):c.775+110C>T	rs114242268	0.00934
NM_001258392.3(CLPB):c.996G>A (p.Arg332=)	rs146912721	0.00764
NM_001258392.3(CLPB):c.775+36_775+45del	rs749598089	0.00760
NM_001258392.3(CLPB):c.455+227del	rs199923190	0.00739
NM_001258392.3(CLPB):c.646+334A>G	rs146391578	0.00734
NM_001258392.3(CLPB):c.456-4818T>C	rs187521672	0.00732
NM_001258392.3(CLPB):c.403+283C>A	rs145207184	0.00706
NM_001258392.3(CLPB):c.1330-117C>G	rs146404707	0.00668
NM_001258392.3(CLPB):c.1330-122T>C	rs139748095	0.00667
NM_001258392.3(CLPB):c.404-242C>G	rs149618023	0.00656
NM_001258392.3(CLPB):c.1330-269G>A	rs77746673	0.00646
NM_001258392.3(CLPB):c.775+39T>G	rs778469813	0.00600
NM_001258392.3(CLPB):c.775+30T>G	rs1372981874	0.00501
NM_001258392.3(CLPB):c.456-299G>A	rs139394086	0.00488
NM_001258392.3(CLPB):c.1486+92G>T	rs185136168	0.00481
NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala)	rs112524097	0.00471
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn)	rs143097446	0.00471
NM_001258392.3(CLPB):c.775+84G>T	rs187786084	0.00467
NM_001258392.3(CLPB):c.775+42A>G	rs754650862	0.00403
NM_001258392.3(CLPB):c.543-289A>T	rs897800751	0.00370
NM_001258392.3(CLPB):c.775+25T>G	rs1396946258	0.00361
NM_001258392.3(CLPB):c.989-108G>A	rs149045302	0.00353
NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp)	rs141383303	0.00324
NM_001258392.3(CLPB):c.1786-106C>T	rs138000635	0.00308
NM_001258392.3(CLPB):c.775+20A>G	rs1464660134	0.00295
NM_001258392.3(CLPB):c.775+37A>G	rs1309102766	0.00295
NM_001258392.3(CLPB):c.775+36A>G	rs1437448527	0.00270
NM_001258392.3(CLPB):c.775+17A>G	rs1170739479	0.00252
NM_030813.6(CLPB):c.661G>A (p.Gly221Ser)	rs150552809	0.00247
NM_001258392.3(CLPB):c.349G>T (p.Ala117Ser)	rs150248137	0.00170
NM_001258392.3(CLPB):c.1122+16T>C	rs187846751	0.00147
NM_001258392.3(CLPB):c.1474G>T (p.Ala492Ser)	rs145040658	0.00133
NM_001258392.3(CLPB):c.1475C>G (p.Ala492Gly)	rs149985372	0.00133
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)	rs150343959	0.00133
NM_001258392.3(CLPB):c.1680+22G>A	rs149474855	0.00091
NM_001258392.3(CLPB):c.1935C>T (p.Leu645=)	rs138717332	0.00088
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr)	rs144777839	0.00051
NM_001258392.3(CLPB):c.723C>T (p.His241=)	rs368930954	0.00048
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val)	rs144942416	0.00045
NM_001258392.3(CLPB):c.874-12C>G	rs201936481	0.00036
NM_001258392.3(CLPB):c.1704G>A (p.Thr568=)	rs141458508	0.00031
NM_001258392.3(CLPB):c.619A>G (p.Lys207Glu)	rs146588273	0.00029
NM_001258392.3(CLPB):c.693C>T (p.Arg231=)	rs149932193	0.00027
NM_001258392.3(CLPB):c.465A>G (p.Ser155=)	rs138171096	0.00026
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp)	rs148534573	0.00026
NM_001258392.3(CLPB):c.690C>T (p.Asn230=)	rs200517382	0.00011
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe)	rs139361195	0.00007
NM_030813.6(CLPB):c.670C>T (p.Arg224Trp)	rs149056885	0.00006
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp)	rs200299650	0.00005
NM_001258392.3(CLPB):c.456-5108A>G	rs767103018	0.00004
NM_030813.6(CLPB):c.703G>T (p.Glu235Ter)	rs374473067	0.00004
NM_030813.6(CLPB):c.715T>C (p.Trp239Arg)	rs746357833	0.00004
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met)	rs200032855	0.00003
NM_001258392.3(CLPB):c.934C>T (p.Arg312Ter)	rs185461628	0.00003
NM_001258392.3(CLPB):c.1018G>A (p.Asp340Asn)	rs893057489	0.00002
NM_001258392.3(CLPB):c.1718G>A (p.Arg573His)	rs765245566	0.00002
NM_001258392.3(CLPB):c.1786-6C>T	rs191389918	0.00002
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser)	rs549191970	0.00002
NM_001258392.3(CLPB):c.692G>A (p.Arg231His)	rs772243585	0.00002
NM_001258392.3(CLPB):c.694G>A (p.Ala232Thr)	rs779228307	0.00002
NM_001258392.3(CLPB):c.819G>C (p.Leu273Phe)	rs368150943	0.00002
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr)	rs372344202	0.00001
NM_001258392.3(CLPB):c.1428G>A (p.Ala476=)	rs750997439	0.00001
NM_001258392.3(CLPB):c.1469G>A (p.Arg490His)	rs568455218	0.00001
NM_001258392.3(CLPB):c.1489G>T (p.Asp497Tyr)	rs918777173	0.00001
NM_001258392.3(CLPB):c.1503T>G (p.Ser501Arg)	rs571871217	0.00001
NM_001258392.3(CLPB):c.1703C>T (p.Thr568Met)	rs755613972	0.00001
NM_001258392.3(CLPB):c.1969A>T (p.Ser657Cys)	rs1254521420	0.00001
NM_001258392.3(CLPB):c.336A>G (p.Gly112=)	rs748194199	0.00001
NM_001258392.3(CLPB):c.829C>T (p.Arg277Ter)	rs1466435969	0.00001
NM_001258392.3(CLPB):c.967G>A (p.Ala323Thr)	rs759050719	0.00001
NC_000011.10:g.72434651del	rs751717679
NC_000011.10:g.72434827_72434828del	rs757349340
NC_000011.10:g.72434827_72434828dup	rs757349340
NC_000011.10:g.72434828dup	rs757349340
NM_001258392.3(CLPB):c.*255C>A	rs75128106
NM_001258392.3(CLPB):c.1002G>C (p.Lys334Asn)
NM_001258392.3(CLPB):c.1014G>A (p.Trp338Ter)
NM_001258392.3(CLPB):c.1066+1G>A	rs1555087619
NM_001258392.3(CLPB):c.1100A>G (p.Tyr367Cys)
NM_001258392.3(CLPB):c.1474_1475delinsTG (p.Ala492Cys)	rs1555085159
NM_001258392.3(CLPB):c.1487-248_1487-244del	rs72333851
NM_001258392.3(CLPB):c.1487-251_1487-245dup	rs149822834
NM_001258392.3(CLPB):c.1492G>A (p.Val498Ile)	rs2135486440
NM_001258392.3(CLPB):c.1534G>A (p.Glu512Lys)
NM_001258392.3(CLPB):c.1588G>A (p.Gly530Arg)	rs2135485868
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp)	rs1949512456
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln)	rs1590753221
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)	rs150857620
NM_001258392.3(CLPB):c.1680+78CA[5]	rs59806404
NM_001258392.3(CLPB):c.1700_1702del (p.Ile567del)	rs1064796961
NM_001258392.3(CLPB):c.1781A>G (p.His594Arg)	rs1565418087
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)
NM_001258392.3(CLPB):c.1835T>G (p.Leu612Arg)
NM_001258392.3(CLPB):c.1859G>A (p.Arg620His)	rs137882645
NM_001258392.3(CLPB):c.1990A>C (p.Ile664Leu)
NM_001258392.3(CLPB):c.1994G>C (p.Arg665Pro)	rs374538248
NM_001258392.3(CLPB):c.328A>G (p.Arg110Gly)
NM_001258392.3(CLPB):c.338T>G (p.Leu113Arg)
NM_001258392.3(CLPB):c.456-4751G>C	rs7947973
NM_001258392.3(CLPB):c.456-4786C>G	rs149291991
NM_001258392.3(CLPB):c.456-4797C>T	rs113165548
NM_001258392.3(CLPB):c.491A>G (p.His164Arg)
NM_001258392.3(CLPB):c.513C>G (p.Leu171=)	rs1017640223
NM_001258392.3(CLPB):c.514A>C (p.Met172Leu)	rs1064796757
NM_001258392.3(CLPB):c.533G>A (p.Arg178Gln)
NM_001258392.3(CLPB):c.548T>A (p.Val183Glu)
NM_001258392.3(CLPB):c.622G>T (p.Glu208Ter)
NM_001258392.3(CLPB):c.646+7359A>G	rs766260304
NM_001258392.3(CLPB):c.775+8_775+9del	rs1482044067
NM_001258392.3(CLPB):c.776-273C>T	rs117992720
NM_001258392.3(CLPB):c.784C>A (p.Pro262Thr)
NM_001258392.3(CLPB):c.788T>C (p.Leu263Pro)
NM_001258392.3(CLPB):c.790C>T (p.Gln264Ter)
NM_001258392.3(CLPB):c.833A>G (p.Glu278Gly)
NM_001258392.3(CLPB):c.873+1G>A	rs974377052
NM_001258392.3(CLPB):c.873+51_873+62del	rs1405193075
NM_001258392.3(CLPB):c.873+68_873+69insATG	rs199756462
NM_001258392.3(CLPB):c.874-2A>G
NM_001258392.3(CLPB):c.905A>G (p.Glu302Gly)	rs745539947
NM_001258392.3(CLPB):c.917G>T (p.Arg306Leu)
NM_001258392.3(CLPB):c.954T>C (p.Ile318=)	rs1042741470
NM_001258392.3(CLPB):c.995G>A (p.Arg332Gln)
NM_030813.6(CLPB):c.654dup (p.Gln219fs)	rs1951072912
NM_030813.6(CLPB):c.676A>G (p.Ile226Val)
NM_030813.6(CLPB):c.729C>T (p.Pro243=)

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