List of variants in gene BMPER 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: 247

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001365308.1(BMPER):c.408C>T (p.Gly136=)	rs10265207	0.42558
NM_001365308.1(BMPER):c.1461G>T (p.Pro487=)	rs77064045	0.24267
NM_001365308.1(BMPER):c.787-235C>G	rs17823568	0.16790
NM_001365308.1(BMPER):c.1746-167C>T	rs10486635	0.15112
NM_001365308.1(BMPER):c.402+189G>A	rs12667262	0.13390
NM_001365308.1(BMPER):c.577-286C>T	rs80053578	0.09529
NM_001365308.1(BMPER):c.402+222A>T	rs75415979	0.05738
NM_001365308.1(BMPER):c.1877-192A>T	rs10226493	0.03607
NM_001365308.1(BMPER):c.133+222C>T	rs78597911	0.02874
NM_001365308.1(BMPER):c.474G>A (p.Met158Ile)	rs62623441	0.02800
NM_001365308.1(BMPER):c.1876+162G>A	rs73690172	0.02359
NM_001365308.1(BMPER):c.1745+220G>A	rs11976864	0.02328
NM_001365308.1(BMPER):c.319+150A>G	rs10244318	0.02055
NM_001365308.1(BMPER):c.319+101C>T	rs59317227	0.02001
NM_001365308.1(BMPER):c.576+118G>A	rs114140786	0.01757
NM_001365308.1(BMPER):c.1745+19G>T	rs11976813	0.01290
NM_001365308.1(BMPER):c.133+9G>C	rs75250304	0.01271
NM_001365308.1(BMPER):c.774T>G (p.Ala258=)	rs117988035	0.00895
NM_001365308.1(BMPER):c.580G>A (p.Gly194Ser)	rs74734392	0.00867
NM_001365308.1(BMPER):c.1086C>T (p.Gly362=)	rs116085783	0.00804
NM_001365308.1(BMPER):c.1663C>T (p.Arg555Trp)	rs10249320	0.00549
NM_001365308.1(BMPER):c.786+18G>T	rs147370771	0.00454
NM_001365308.1(BMPER):c.1797C>T (p.Cys599=)	rs74674953	0.00436
NM_001365308.1(BMPER):c.417A>T (p.Thr139=)	rs147600292	0.00418
NM_001365308.1(BMPER):c.1087G>A (p.Val363Ile)	rs117322489	0.00405
NM_001365308.1(BMPER):c.*1163C>T	rs144812459	0.00312
NM_001365308.1(BMPER):c.219+18G>C	rs376510799	0.00158
NM_001365308.1(BMPER):c.220A>G (p.Asn74Asp)	rs144030074	0.00147
NM_001365308.1(BMPER):c.1974G>A (p.Pro658=)	rs140264933	0.00127
NM_001365308.1(BMPER):c.1248G>A (p.Ser416=)	rs199800567	0.00123
NM_001365308.1(BMPER):c.1629T>C (p.Pro543=)	rs150450201	0.00120
NM_001365308.1(BMPER):c.168C>T (p.Val56=)	rs112068976	0.00117
NM_001365308.1(BMPER):c.664C>T (p.Pro222Ser)	rs148867097	0.00112
NM_001365308.1(BMPER):c.493+5C>T	rs191957211	0.00104
NM_001365308.1(BMPER):c.1818C>A (p.Thr606=)	rs138797097	0.00094
NM_001365308.1(BMPER):c.1451T>C (p.Met484Thr)	rs140406284	0.00068
NM_001365308.1(BMPER):c.1460C>T (p.Pro487Leu)	rs115364786	0.00059
NM_001365308.1(BMPER):c.1906G>A (p.Asp636Asn)	rs202141422	0.00027
NM_001365308.1(BMPER):c.1902G>C (p.Val634=)	rs150768568	0.00026
NM_001365308.1(BMPER):c.1514G>A (p.Arg505His)	rs189187507	0.00024
NM_001365308.1(BMPER):c.1592A>G (p.Asn531Ser)	rs140570715	0.00023
NM_001365308.1(BMPER):c.722G>A (p.Arg241Gln)	rs200453593	0.00023
NM_001365308.1(BMPER):c.1731C>T (p.Tyr577=)	rs549887524	0.00019
NM_001365308.1(BMPER):c.106A>G (p.Met36Val)	rs368119843	0.00015
NM_001365308.1(BMPER):c.1792T>C (p.Tyr598His)	rs570211162	0.00012
NM_001365308.1(BMPER):c.246G>A (p.Glu82=)	rs148691108	0.00012
NM_001365308.1(BMPER):c.577-16T>C	rs757676316	0.00010
NM_001365308.1(BMPER):c.1673G>A (p.Arg558Gln)	rs141418851	0.00009
NM_001365308.1(BMPER):c.1978G>A (p.Val660Ile)	rs376351419	0.00009
NM_001365308.1(BMPER):c.1457C>T (p.Ala486Val)	rs368522901	0.00008
NM_001365308.1(BMPER):c.1732G>A (p.Ala578Thr)	rs181893738	0.00008
NM_001365308.1(BMPER):c.319+18C>T	rs370292674	0.00008
NM_001365308.1(BMPER):c.79C>T (p.Leu27=)	rs780768347	0.00007
NM_001365308.1(BMPER):c.229G>A (p.Val77Met)	rs376317780	0.00006
NM_001365308.1(BMPER):c.1129G>C (p.Gly377Arg)	rs200294505	0.00005
NM_001365308.1(BMPER):c.2054G>A (p.Arg685Gln)	rs201578248	0.00005
NM_001365308.1(BMPER):c.759C>T (p.Tyr253=)	rs377437543	0.00005
NM_001365308.1(BMPER):c.1207G>A (p.Val403Met)	rs371160820	0.00004
NM_001365308.1(BMPER):c.1724T>C (p.Val575Ala)	rs760584340	0.00004
NM_001365308.1(BMPER):c.220-19C>T	rs376011702	0.00004
NM_001365308.1(BMPER):c.932G>C (p.Gly311Ala)	rs779852774	0.00004
NM_001365308.1(BMPER):c.116C>G (p.Ala39Gly)	rs369009264	0.00003
NM_001365308.1(BMPER):c.1743C>T (p.Tyr581=)	rs373141339	0.00003
NM_001365308.1(BMPER):c.1798G>A (p.Glu600Lys)	rs761159719	0.00003
NM_001365308.1(BMPER):c.1807T>C (p.Leu603=)	rs749953123	0.00003
NM_001365308.1(BMPER):c.340A>G (p.Thr114Ala)	rs761287443	0.00003
NM_001365308.1(BMPER):c.16G>C (p.Gly6Arg)	rs142872640	0.00002
NM_001365308.1(BMPER):c.391C>T (p.Arg131Cys)	rs374945016	0.00002
NM_001365308.1(BMPER):c.46C>A (p.Arg16Ser)	rs760953708	0.00002
NM_001365308.1(BMPER):c.603A>G (p.Glu201=)	rs1331701476	0.00002
NM_001365308.1(BMPER):c.1003C>A (p.Gln335Lys)	rs886062297	0.00001
NM_001365308.1(BMPER):c.107T>C (p.Met36Thr)	rs921065737	0.00001
NM_001365308.1(BMPER):c.1289T>G (p.Val430Gly)	rs1216089313	0.00001
NM_001365308.1(BMPER):c.134-17T>C	rs542452381	0.00001
NM_001365308.1(BMPER):c.1371C>G (p.Asp457Glu)	rs758083898	0.00001
NM_001365308.1(BMPER):c.1438T>C (p.Phe480Leu)	rs201677379	0.00001
NM_001365308.1(BMPER):c.1513C>T (p.Arg505Cys)	rs777105677	0.00001
NM_001365308.1(BMPER):c.1734C>T (p.Ala578=)	rs759438335	0.00001
NM_001365308.1(BMPER):c.1927A>T (p.Ile643Phe)	rs528093648	0.00001
NM_001365308.1(BMPER):c.1977C>T (p.Cys659=)	rs766776338	0.00001
NM_001365308.1(BMPER):c.372G>A (p.Pro124=)	rs750265350	0.00001
NM_001365308.1(BMPER):c.390A>C (p.Leu130=)	rs754813827	0.00001
NM_001365308.1(BMPER):c.576+13G>A	rs1297910211	0.00001
NM_001365308.1(BMPER):c.816C>A (p.Cys272Ter)	rs777026516	0.00001
NM_001365308.1(BMPER):c.860A>G (p.Glu287Gly)	rs1422913671	0.00001
NM_001365308.1(BMPER):c.911G>A (p.Gly304Asp)	rs747654032	0.00001
NM_001365308.1(BMPER):c.925C>T (p.Gln309Ter)	rs387906992	0.00001
GRCh37/hg19 7p14.3(chr7:33667313-34047534)x4
GRCh37/hg19 7p14.3(chr7:33868997-34247759)x1
GRCh37/hg19 7p14.3(chr7:33914258-34015196)x4
NC_000007.13:g.(?_33945226)_(33977020_?)dup
NC_000007.13:g.(?_34006071)_(34014416_?)dup
NC_000007.13:g.(?_34009921)_(34010051_?)del
NC_000007.13:g.(?_34125348)_(34192885_?)del
NM_001365308.1(BMPER):c.*126TA[7]	rs68052795
NM_001365308.1(BMPER):c.1482_1483del	rs5883454
NM_001365308.1(BMPER):c.1032+116T>G	rs77827400
NM_001365308.1(BMPER):c.1032+19T>C
NM_001365308.1(BMPER):c.1032+81G>A	rs116032698
NM_001365308.1(BMPER):c.1033-37dup	rs3083769
NM_001365308.1(BMPER):c.1033-40_1033-37dup	rs3083769
NM_001365308.1(BMPER):c.1035C>T (p.Gly345=)
NM_001365308.1(BMPER):c.1054G>A (p.Gly352Arg)	rs1434938264
NM_001365308.1(BMPER):c.1078+15T>C
NM_001365308.1(BMPER):c.1079-15C>T
NM_001365308.1(BMPER):c.1095G>A (p.Thr365=)
NM_001365308.1(BMPER):c.1095G>C (p.Thr365=)
NM_001365308.1(BMPER):c.1125T>C (p.Phe375=)
NM_001365308.1(BMPER):c.1134G>C (p.Arg378=)
NM_001365308.1(BMPER):c.1143C>T (p.Asn381=)
NM_001365308.1(BMPER):c.1164C>T (p.Tyr388=)
NM_001365308.1(BMPER):c.1188C>T (p.Ser396=)	rs2127973854
NM_001365308.1(BMPER):c.1202T>C (p.Phe401Ser)
NM_001365308.1(BMPER):c.1221C>T (p.Asn407=)
NM_001365308.1(BMPER):c.1229G>A (p.Arg410His)
NM_001365308.1(BMPER):c.1232G>A (p.Arg411Gln)
NM_001365308.1(BMPER):c.1233G>C (p.Arg411=)
NM_001365308.1(BMPER):c.1239C>T (p.Arg413=)
NM_001365308.1(BMPER):c.1259C>A (p.Ser420Ter)	rs2127973901
NM_001365308.1(BMPER):c.1275G>A (p.Leu425=)
NM_001365308.1(BMPER):c.1278C>T (p.Gly426=)
NM_001365308.1(BMPER):c.1305C>T (p.His435=)
NM_001365308.1(BMPER):c.1306C>T (p.Leu436Phe)	rs1014174777
NM_001365308.1(BMPER):c.1323C>T (p.Asn441=)	rs781214057
NM_001365308.1(BMPER):c.1329G>A (p.Ser443=)
NM_001365308.1(BMPER):c.133+11G>A
NM_001365308.1(BMPER):c.133+15G>A
NM_001365308.1(BMPER):c.133+8A>G	rs1350356122
NM_001365308.1(BMPER):c.1335C>T (p.Ile445=)
NM_001365308.1(BMPER):c.134-14C>T
NM_001365308.1(BMPER):c.134-16C>T	rs767242515
NM_001365308.1(BMPER):c.1344C>T (p.Pro448=)
NM_001365308.1(BMPER):c.1359C>T (p.His453=)
NM_001365308.1(BMPER):c.1365C>T (p.His455=)
NM_001365308.1(BMPER):c.1366A>G (p.Ile456Val)
NM_001365308.1(BMPER):c.1404A>G (p.Lys468=)
NM_001365308.1(BMPER):c.1411T>C (p.Leu471=)
NM_001365308.1(BMPER):c.1421C>A (p.Ser474Tyr)
NM_001365308.1(BMPER):c.1443A>G (p.Val481=)
NM_001365308.1(BMPER):c.1455T>C (p.Ala485=)
NM_001365308.1(BMPER):c.1461G>A (p.Pro487=)	rs77064045
NM_001365308.1(BMPER):c.1464T>C (p.His488=)	rs1417207119
NM_001365308.1(BMPER):c.1577G>A (p.Trp526Ter)	rs1789189854
NM_001365308.1(BMPER):c.1581G>A (p.Arg527=)
NM_001365308.1(BMPER):c.1602C>T (p.Cys534=)
NM_001365308.1(BMPER):c.1621C>T (p.Pro541Ser)
NM_001365308.1(BMPER):c.1648_1649del (p.Val550fs)
NM_001365308.1(BMPER):c.1665G>A (p.Arg555=)
NM_001365308.1(BMPER):c.1686G>T (p.Lys562Asn)
NM_001365308.1(BMPER):c.1689C>G (p.Leu563=)
NM_001365308.1(BMPER):c.1695C>T (p.Ser565=)
NM_001365308.1(BMPER):c.1719G>A (p.Ser573=)
NM_001365308.1(BMPER):c.1744C>T (p.Arg582Trp)
NM_001365308.1(BMPER):c.1745+10G>A	rs780676967
NM_001365308.1(BMPER):c.1745+5G>T	rs548825415
NM_001365308.1(BMPER):c.1745+9A>C
NM_001365308.1(BMPER):c.1757C>T (p.Thr586Ile)	rs2127994695
NM_001365308.1(BMPER):c.1774C>T (p.Pro592Ser)	rs1415740499
NM_001365308.1(BMPER):c.1822G>A (p.Ala608Thr)
NM_001365308.1(BMPER):c.1877-11C>G	rs2127997369
NM_001365308.1(BMPER):c.1877-15C>G
NM_001365308.1(BMPER):c.18C>A (p.Gly6=)
NM_001365308.1(BMPER):c.1900G>C (p.Val634Leu)
NM_001365308.1(BMPER):c.1905C>T (p.Tyr635=)
NM_001365308.1(BMPER):c.1917T>C (p.Gly639=)
NM_001365308.1(BMPER):c.1919C>T (p.Pro640Leu)
NM_001365308.1(BMPER):c.1920G>A (p.Pro640=)	rs138208962
NM_001365308.1(BMPER):c.1929C>T (p.Ile643=)
NM_001365308.1(BMPER):c.1935G>A (p.Thr645=)	rs6968741
NM_001365308.1(BMPER):c.1935G>C (p.Thr645=)	rs6968741
NM_001365308.1(BMPER):c.1961C>T (p.Pro654Leu)
NM_001365308.1(BMPER):c.1973C>T (p.Pro658Leu)
NM_001365308.1(BMPER):c.197C>T (p.Pro66Leu)
NM_001365308.1(BMPER):c.2027G>A (p.Cys676Tyr)
NM_001365308.1(BMPER):c.220-18G>A
NM_001365308.1(BMPER):c.220-268C>T	rs57306272
NM_001365308.1(BMPER):c.254C>T (p.Pro85Leu)	rs142205105
NM_001365308.1(BMPER):c.255C>T (p.Pro85=)
NM_001365308.1(BMPER):c.25G>A (p.Ala9Thr)	rs775069844
NM_001365308.1(BMPER):c.319+17C>T
NM_001365308.1(BMPER):c.319+19G>A
NM_001365308.1(BMPER):c.320-10T>G
NM_001365308.1(BMPER):c.320-18T>C
NM_001365308.1(BMPER):c.322T>C (p.Cys108Arg)
NM_001365308.1(BMPER):c.333A>G (p.Glu111=)
NM_001365308.1(BMPER):c.336A>G (p.Gly112=)
NM_001365308.1(BMPER):c.36G>A (p.Glu12=)
NM_001365308.1(BMPER):c.371C>T (p.Pro124Leu)
NM_001365308.1(BMPER):c.396G>A (p.Gln132=)
NM_001365308.1(BMPER):c.402+10A>C
NM_001365308.1(BMPER):c.402+17TC[3]	rs781507632
NM_001365308.1(BMPER):c.403-11_403-10del	rs561194354
NM_001365308.1(BMPER):c.403-13T>A	rs199684961
NM_001365308.1(BMPER):c.403-13T>C	rs199684961
NM_001365308.1(BMPER):c.403-14G>A
NM_001365308.1(BMPER):c.416C>G (p.Thr139Arg)	rs868447365
NM_001365308.1(BMPER):c.419A>G (p.Glu140Gly)
NM_001365308.1(BMPER):c.490C>G (p.Pro164Ala)
NM_001365308.1(BMPER):c.493+12A>G
NM_001365308.1(BMPER):c.493+16A>C
NM_001365308.1(BMPER):c.493+9C>T
NM_001365308.1(BMPER):c.494-11C>G
NM_001365308.1(BMPER):c.494-16C>T
NM_001365308.1(BMPER):c.494-8C>T
NM_001365308.1(BMPER):c.494-9G>A
NM_001365308.1(BMPER):c.501_502del (p.Val167_Phe168insTer)	rs1785639514
NM_001365308.1(BMPER):c.505G>A (p.Glu169Lys)
NM_001365308.1(BMPER):c.513G>A (p.Val171=)
NM_001365308.1(BMPER):c.541C>A (p.Pro181Thr)
NM_001365308.1(BMPER):c.552C>G (p.Ser184Arg)	rs2128619796
NM_001365308.1(BMPER):c.561C>A (p.Thr187=)
NM_001365308.1(BMPER):c.576+19G>T
NM_001365308.1(BMPER):c.576+20T>A	rs776906308
NM_001365308.1(BMPER):c.577-10C>T	rs775452388
NM_001365308.1(BMPER):c.577-15T>C
NM_001365308.1(BMPER):c.577-20T>A
NM_001365308.1(BMPER):c.60G>A (p.Gly20=)
NM_001365308.1(BMPER):c.646C>T (p.Pro216Ser)
NM_001365308.1(BMPER):c.655C>T (p.Gln219Ter)
NM_001365308.1(BMPER):c.673T>C (p.Leu225=)
NM_001365308.1(BMPER):c.674T>A (p.Leu225Ter)
NM_001365308.1(BMPER):c.677-14C>G
NM_001365308.1(BMPER):c.69C>T (p.Cys23=)
NM_001365308.1(BMPER):c.710G>A (p.Ser237Asn)
NM_001365308.1(BMPER):c.747C>T (p.Ser249=)
NM_001365308.1(BMPER):c.760G>A (p.Asp254Asn)	rs267601491
NM_001365308.1(BMPER):c.786+7C>T
NM_001365308.1(BMPER):c.787-3C>T	rs2127961939
NM_001365308.1(BMPER):c.787-88A>C	rs17169636
NM_001365308.1(BMPER):c.789C>T (p.Asp263=)
NM_001365308.1(BMPER):c.815G>A (p.Cys272Tyr)
NM_001365308.1(BMPER):c.816C>T (p.Cys272=)
NM_001365308.1(BMPER):c.831C>T (p.Gly277=)
NM_001365308.1(BMPER):c.842G>A (p.Gly281Asp)
NM_001365308.1(BMPER):c.864G>T (p.Glu288Asp)	rs1475153405
NM_001365308.1(BMPER):c.904A>C (p.Lys302Gln)	rs555635258
NM_001365308.1(BMPER):c.927+15A>G
NM_001365308.1(BMPER):c.927+18C>T
NM_001365308.1(BMPER):c.927+3A>G
NM_001365308.1(BMPER):c.928-227AC[12]	rs113240345
NM_001365308.1(BMPER):c.928-227AC[14]	rs113240345
NM_001365308.1(BMPER):c.928-227AC[15]	rs113240345
NM_001365308.1(BMPER):c.928-3T>C
NM_001365308.1(BMPER):c.942G>A (p.Trp314Ter)	rs1788331355
NM_001365308.1(BMPER):c.943T>C (p.Ser315Pro)
NM_001365308.1(BMPER):c.966T>C (p.Cys322=)
NM_001365308.1(BMPER):c.995G>A (p.Arg332His)

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