ClinVar Miner

List of variants in gene HNRNPA2B1 studied for inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 261
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002137.4(HNRNPA2B1):c.519A>G (p.Arg173=) rs34317198 0.04885
NM_002137.4(HNRNPA2B1):c.117+4T>C rs41275982 0.03091
NM_002137.4(HNRNPA2B1):c.841+6A>G rs144309126 0.00625
NM_002137.4(HNRNPA2B1):c.645T>C (p.Phe215=) rs117082250 0.00481
NM_002137.4(HNRNPA2B1):c.721+19T>C rs183451681 0.00296
NM_002137.4(HNRNPA2B1):c.288T>C (p.His96=) rs142061533 0.00214
NM_002137.4(HNRNPA2B1):c.658+18C>T rs200943057 0.00103
NM_002137.4(HNRNPA2B1):c.964+10A>G rs181705411 0.00058
NM_002137.4(HNRNPA2B1):c.117+13C>T rs201523113 0.00052
NM_002137.4(HNRNPA2B1):c.243A>G (p.Pro81=) rs143134057 0.00043
NM_002137.4(HNRNPA2B1):c.610G>A (p.Gly204Ser) rs200929422 0.00041
NM_002137.4(HNRNPA2B1):c.7-142C>T rs1554334664 0.00040
NM_002137.4(HNRNPA2B1):c.906T>A (p.Gly302=) rs139270847 0.00037
NM_002137.4(HNRNPA2B1):c.744C>T (p.Pro248=) rs141885504 0.00032
NM_002137.4(HNRNPA2B1):c.756A>C (p.Gly252=) rs199909637 0.00022
NM_002137.4(HNRNPA2B1):c.657T>C (p.Ser219=) rs370050080 0.00020
NM_002137.4(HNRNPA2B1):c.659-5A>G rs375047300 0.00019
NM_002137.4(HNRNPA2B1):c.330T>C (p.Asp110=) rs191937523 0.00017
NM_002137.4(HNRNPA2B1):c.984C>A (p.Gly328=) rs768943063 0.00010
NM_002137.4(HNRNPA2B1):c.315C>T (p.Gly105=) rs766409233 0.00007
NM_002137.4(HNRNPA2B1):c.738T>C (p.Gly246=) rs372103090 0.00007
NM_002137.4(HNRNPA2B1):c.265-7A>G rs200804634 0.00006
NM_002137.4(HNRNPA2B1):c.348T>C (p.Leu116=) rs369903398 0.00006
NM_002137.4(HNRNPA2B1):c.475+17A>G rs372335871 0.00006
NM_002137.4(HNRNPA2B1):c.475+9C>T rs199612730 0.00006
NM_002137.4(HNRNPA2B1):c.577+19C>T rs376108628 0.00006
NM_002137.4(HNRNPA2B1):c.7-143T>C rs773972068 0.00006
NM_002137.4(HNRNPA2B1):c.118-13T>C rs201555515 0.00005
NM_002137.4(HNRNPA2B1):c.578-10T>C rs199915606 0.00005
NM_002137.4(HNRNPA2B1):c.118-14C>T rs538106204 0.00004
NM_002137.4(HNRNPA2B1):c.14A>G (p.Lys5Arg) rs751281272 0.00004
NM_002137.4(HNRNPA2B1):c.189T>C (p.Val63=) rs763034724 0.00004
NM_002137.4(HNRNPA2B1):c.255A>T (p.Val85=) rs766034699 0.00004
NM_002137.4(HNRNPA2B1):c.264+15A>C rs755655979 0.00004
NM_002137.4(HNRNPA2B1):c.264+17T>G rs113451169 0.00004
NM_002137.4(HNRNPA2B1):c.658+16T>G rs768701450 0.00004
NM_002137.4(HNRNPA2B1):c.658+9C>T rs760373015 0.00004
NM_002137.4(HNRNPA2B1):c.659-19T>C rs781454007 0.00004
NM_002137.4(HNRNPA2B1):c.715C>T (p.Pro239Ser) rs1182485259 0.00004
NM_002137.4(HNRNPA2B1):c.745G>A (p.Gly249Ser) rs375157988 0.00004
NM_002137.4(HNRNPA2B1):c.118-16C>T rs764779949 0.00003
NM_002137.4(HNRNPA2B1):c.475+13C>T rs768171787 0.00003
NM_002137.4(HNRNPA2B1):c.476-3C>T rs370807816 0.00003
NM_002137.4(HNRNPA2B1):c.658+19G>A rs756561817 0.00003
NM_002137.4(HNRNPA2B1):c.135A>C (p.Ala45=) rs1183583583 0.00002
NM_002137.4(HNRNPA2B1):c.234A>G (p.Val78=) rs747275893 0.00002
NM_002137.4(HNRNPA2B1):c.475+14C>T rs762364030 0.00002
NM_002137.4(HNRNPA2B1):c.581A>G (p.Asn194Ser) rs772251120 0.00002
NM_002137.4(HNRNPA2B1):c.659-9C>T rs753342691 0.00002
NM_002137.4(HNRNPA2B1):c.7-8C>T rs760997086 0.00002
NM_002137.4(HNRNPA2B1):c.240G>A (p.Glu80=) rs903178880 0.00001
NM_002137.4(HNRNPA2B1):c.33C>G (p.Leu11=) rs774999756 0.00001
NM_002137.4(HNRNPA2B1):c.375A>G (p.Lys125=) rs762275925 0.00001
NM_002137.4(HNRNPA2B1):c.384C>T (p.Thr128=) rs1029027404 0.00001
NM_002137.4(HNRNPA2B1):c.405G>A (p.Arg135=) rs368150379 0.00001
NM_002137.4(HNRNPA2B1):c.486C>T (p.Tyr162=) rs761317835 0.00001
NM_002137.4(HNRNPA2B1):c.528G>A (p.Leu176=) rs1310351369 0.00001
NM_002137.4(HNRNPA2B1):c.577+9A>C rs183805853 0.00001
NM_002137.4(HNRNPA2B1):c.621C>T (p.Phe207=) rs75052951 0.00001
NM_002137.4(HNRNPA2B1):c.669C>T (p.Gly223=) rs767263210 0.00001
NM_002137.4(HNRNPA2B1):c.7-93C>T rs1204225273 0.00001
NM_002137.4(HNRNPA2B1):c.721+10C>T rs768374617 0.00001
NM_002137.4(HNRNPA2B1):c.852A>G (p.Gly284=) rs757740786 0.00001
NM_002137.4(HNRNPA2B1):c.902A>T (p.Tyr301Phe) rs573171238 0.00001
NM_002137.4(HNRNPA2B1):c.903C>T (p.Tyr301=) rs760203875 0.00001
NM_002137.4(HNRNPA2B1):c.939G>A (p.Arg313=) rs976217500 0.00001
NM_002137.4(HNRNPA2B1):c.964+16T>C rs757258647 0.00001
NM_002137.4(HNRNPA2B1):c.964+5T>G rs878989290 0.00001
NM_002137.4(HNRNPA2B1):c.965-3T>C rs111258330 0.00001
NM_002137.4(HNRNPA2B1):c.987T>C (p.Ser329=) rs764119920 0.00001
NC_000007.13:g.(?_26232136)_(26236121_?)dup
NC_000007.13:g.(?_26232136)_(26240197_?)del
NC_000007.13:g.(?_26232136)_(26240197_?)dup
NC_000007.13:g.(?_26237222)_(26240197_?)dup
NC_000007.13:g.(?_26240172)_(26240197_?)del
NC_000007.14:g.(?_26200562)_(26200587_?)dup
NM_002137.4(HNRNPA2B1):c.1001del (p.Gly334fs)
NM_002137.4(HNRNPA2B1):c.111C>T (p.Asp37=)
NM_002137.4(HNRNPA2B1):c.117+11T>G
NM_002137.4(HNRNPA2B1):c.117+8A>G
NM_002137.4(HNRNPA2B1):c.118-14C>G
NM_002137.4(HNRNPA2B1):c.118-20T>C
NM_002137.4(HNRNPA2B1):c.129T>C (p.Asp43=)
NM_002137.4(HNRNPA2B1):c.147A>G (p.Ser49=) rs773260084
NM_002137.4(HNRNPA2B1):c.171T>C (p.Phe57=)
NM_002137.4(HNRNPA2B1):c.192T>C (p.Asp64=)
NM_002137.4(HNRNPA2B1):c.203C>G (p.Ala68Gly) rs1583995662
NM_002137.4(HNRNPA2B1):c.205_206delinsCT (p.Ala69Leu) rs2128123630
NM_002137.4(HNRNPA2B1):c.228G>A (p.Gly76=)
NM_002137.4(HNRNPA2B1):c.233T>C (p.Val78Ala) rs2128123592
NM_002137.4(HNRNPA2B1):c.246A>G (p.Lys82=) rs1428232126
NM_002137.4(HNRNPA2B1):c.264+10C>T
NM_002137.4(HNRNPA2B1):c.264+12A>G rs2128123505
NM_002137.4(HNRNPA2B1):c.264+13T>C
NM_002137.4(HNRNPA2B1):c.264+14G>A rs1783761546
NM_002137.4(HNRNPA2B1):c.264+16C>T
NM_002137.4(HNRNPA2B1):c.264+17T>C
NM_002137.4(HNRNPA2B1):c.264+20C>T
NM_002137.4(HNRNPA2B1):c.265-15C>G
NM_002137.4(HNRNPA2B1):c.265-16C>A
NM_002137.4(HNRNPA2B1):c.265-16_265-15insA
NM_002137.4(HNRNPA2B1):c.265-20_265-19del
NM_002137.4(HNRNPA2B1):c.265-75_614del
NM_002137.4(HNRNPA2B1):c.27T>G (p.Arg9=) rs762387902
NM_002137.4(HNRNPA2B1):c.300G>A (p.Lys100=) rs759627147
NM_002137.4(HNRNPA2B1):c.309T>C (p.Phe103=)
NM_002137.4(HNRNPA2B1):c.315C>A (p.Gly105=)
NM_002137.4(HNRNPA2B1):c.318A>T (p.Gly106=)
NM_002137.4(HNRNPA2B1):c.322_324del (p.Lys108del) rs2128122460
NM_002137.4(HNRNPA2B1):c.333T>C (p.Thr111=)
NM_002137.4(HNRNPA2B1):c.33C>T (p.Leu11=)
NM_002137.4(HNRNPA2B1):c.357C>T (p.Tyr119=) rs2128122380
NM_002137.4(HNRNPA2B1):c.369T>C (p.Tyr123=)
NM_002137.4(HNRNPA2B1):c.384C>A (p.Thr128=)
NM_002137.4(HNRNPA2B1):c.391A>T (p.Ile131Leu)
NM_002137.4(HNRNPA2B1):c.408G>A (p.Gln136=)
NM_002137.4(HNRNPA2B1):c.417G>A (p.Lys139=)
NM_002137.4(HNRNPA2B1):c.444T>C (p.Phe148=)
NM_002137.4(HNRNPA2B1):c.451C>T (p.His151Tyr)
NM_002137.4(HNRNPA2B1):c.45C>G (p.Gly15=)
NM_002137.4(HNRNPA2B1):c.45C>T (p.Gly15=) rs759565085
NM_002137.4(HNRNPA2B1):c.475+10T>A
NM_002137.4(HNRNPA2B1):c.475+13C>G
NM_002137.4(HNRNPA2B1):c.475+17A>C
NM_002137.4(HNRNPA2B1):c.475+18A>G rs764410543
NM_002137.4(HNRNPA2B1):c.475+18A>T
NM_002137.4(HNRNPA2B1):c.475+3A>G
NM_002137.4(HNRNPA2B1):c.475+6T>A rs1783699263
NM_002137.4(HNRNPA2B1):c.475+7G>A rs201533402
NM_002137.4(HNRNPA2B1):c.475+9C>G
NM_002137.4(HNRNPA2B1):c.475T>C (p.Leu159=) rs544243388
NM_002137.4(HNRNPA2B1):c.476-16G>A rs546524344
NM_002137.4(HNRNPA2B1):c.476-16G>C
NM_002137.4(HNRNPA2B1):c.476-19T>C
NM_002137.4(HNRNPA2B1):c.476-22_476-20del
NM_002137.4(HNRNPA2B1):c.476-3del rs761023632
NM_002137.4(HNRNPA2B1):c.476-4C>A
NM_002137.4(HNRNPA2B1):c.476-8C>A
NM_002137.4(HNRNPA2B1):c.483A>G (p.Lys161=)
NM_002137.4(HNRNPA2B1):c.505A>G (p.Asn169Asp) rs1353165662
NM_002137.4(HNRNPA2B1):c.510A>G (p.Ala170=)
NM_002137.4(HNRNPA2B1):c.525T>C (p.Ala175=)
NM_002137.4(HNRNPA2B1):c.525_526delinsGC (p.Ala175_Leu176=) rs2128121604
NM_002137.4(HNRNPA2B1):c.546G>A (p.Gln182=)
NM_002137.4(HNRNPA2B1):c.562A>C (p.Arg188=)
NM_002137.4(HNRNPA2B1):c.574G>A (p.Gly192Arg)
NM_002137.4(HNRNPA2B1):c.577+13C>T
NM_002137.4(HNRNPA2B1):c.577+13_577+14del rs775062953
NM_002137.4(HNRNPA2B1):c.577+15G>C rs1292888920
NM_002137.4(HNRNPA2B1):c.577+18_577+21del
NM_002137.4(HNRNPA2B1):c.578-12C>T
NM_002137.4(HNRNPA2B1):c.578-16G>C
NM_002137.4(HNRNPA2B1):c.578-18C>T
NM_002137.4(HNRNPA2B1):c.578-20A>T
NM_002137.4(HNRNPA2B1):c.6+12G>A
NM_002137.4(HNRNPA2B1):c.6+12G>C
NM_002137.4(HNRNPA2B1):c.6+14A>C
NM_002137.4(HNRNPA2B1):c.6+15A>G
NM_002137.4(HNRNPA2B1):c.6+7G>A
NM_002137.4(HNRNPA2B1):c.601C>T (p.Arg201Cys) rs1480889342
NM_002137.4(HNRNPA2B1):c.602G>A (p.Arg201His)
NM_002137.4(HNRNPA2B1):c.609C>T (p.Gly203=)
NM_002137.4(HNRNPA2B1):c.612T>C (p.Gly204=)
NM_002137.4(HNRNPA2B1):c.625CCAGGA[1] (p.209PG[1]) rs756044930
NM_002137.4(HNRNPA2B1):c.633A>G (p.Pro211=) rs752086550
NM_002137.4(HNRNPA2B1):c.638G>A (p.Ser213Asn)
NM_002137.4(HNRNPA2B1):c.651A>G (p.Gly217=)
NM_002137.4(HNRNPA2B1):c.651A>T (p.Gly217=)
NM_002137.4(HNRNPA2B1):c.655T>G (p.Ser219Ala)
NM_002137.4(HNRNPA2B1):c.657T>A (p.Ser219=) rs370050080
NM_002137.4(HNRNPA2B1):c.658+10A>G
NM_002137.4(HNRNPA2B1):c.658+13T>C
NM_002137.4(HNRNPA2B1):c.658+15C>A rs774366010
NM_002137.4(HNRNPA2B1):c.658+18C>A
NM_002137.4(HNRNPA2B1):c.659-10C>T rs1783546491
NM_002137.4(HNRNPA2B1):c.659-11G>C
NM_002137.4(HNRNPA2B1):c.659-13del
NM_002137.4(HNRNPA2B1):c.659-13dup rs754016775
NM_002137.4(HNRNPA2B1):c.659-14_659-13del rs754016775
NM_002137.4(HNRNPA2B1):c.659-16T>C
NM_002137.4(HNRNPA2B1):c.659-20C>G
NM_002137.4(HNRNPA2B1):c.659-3C>A
NM_002137.4(HNRNPA2B1):c.659-4A>G rs1562711082
NM_002137.4(HNRNPA2B1):c.659-7C>G rs199606705
NM_002137.4(HNRNPA2B1):c.667G>T (p.Gly223Cys)
NM_002137.4(HNRNPA2B1):c.66A>G (p.Glu22=) rs1783800258
NM_002137.4(HNRNPA2B1):c.676C>T (p.Arg226Cys) rs2128119204
NM_002137.4(HNRNPA2B1):c.687G>A (p.Gly229=)
NM_002137.4(HNRNPA2B1):c.696T>C (p.Tyr232=) rs2128119159
NM_002137.4(HNRNPA2B1):c.7-115C>A rs2128124594
NM_002137.4(HNRNPA2B1):c.7-119_7-118del
NM_002137.4(HNRNPA2B1):c.7-120T>G
NM_002137.4(HNRNPA2B1):c.7-128_7-127del rs2128124605
NM_002137.4(HNRNPA2B1):c.7-132A>G
NM_002137.4(HNRNPA2B1):c.7-137C>T
NM_002137.4(HNRNPA2B1):c.7-137del rs759915055
NM_002137.4(HNRNPA2B1):c.7-137dup rs759915055
NM_002137.4(HNRNPA2B1):c.7-141C>T
NM_002137.4(HNRNPA2B1):c.7-143del rs57800062
NM_002137.4(HNRNPA2B1):c.7-143dup
NM_002137.4(HNRNPA2B1):c.7-145_7-143del
NM_002137.4(HNRNPA2B1):c.7-146_7-143del
NM_002137.4(HNRNPA2B1):c.7-147T>C
NM_002137.4(HNRNPA2B1):c.7-14A>T
NM_002137.4(HNRNPA2B1):c.7-81C>T
NM_002137.4(HNRNPA2B1):c.7-90C>T
NM_002137.4(HNRNPA2B1):c.7-9C>G rs1216873156
NM_002137.4(HNRNPA2B1):c.700G>A (p.Gly234Arg) rs2128119149
NM_002137.4(HNRNPA2B1):c.705T>C (p.Tyr235=)
NM_002137.4(HNRNPA2B1):c.721+11C>T
NM_002137.4(HNRNPA2B1):c.721+16C>A rs201651457
NM_002137.4(HNRNPA2B1):c.721+16C>T
NM_002137.4(HNRNPA2B1):c.721+19T>G
NM_002137.4(HNRNPA2B1):c.722-15C>T
NM_002137.4(HNRNPA2B1):c.722-17G>A
NM_002137.4(HNRNPA2B1):c.722-20A>G
NM_002137.4(HNRNPA2B1):c.728A>G (p.Asn243Ser)
NM_002137.4(HNRNPA2B1):c.735A>T (p.Gly245=)
NM_002137.4(HNRNPA2B1):c.763GGA[1] (p.Gly256del) rs2128110727
NM_002137.4(HNRNPA2B1):c.779G>C (p.Gly260Ala) rs2128110679
NM_002137.4(HNRNPA2B1):c.797A>G (p.Asn266Ser) rs1554331125
NM_002137.4(HNRNPA2B1):c.809_811dup (p.Gly270_Tyr271insCys)
NM_002137.4(HNRNPA2B1):c.813C>T (p.Tyr271=)
NM_002137.4(HNRNPA2B1):c.817G>A (p.Gly273Ser)
NM_002137.4(HNRNPA2B1):c.833A>G (p.Tyr278Cys)
NM_002137.4(HNRNPA2B1):c.841+16G>A
NM_002137.4(HNRNPA2B1):c.842-11dup rs1465279377
NM_002137.4(HNRNPA2B1):c.842-12A>G
NM_002137.4(HNRNPA2B1):c.842-12A>T rs201433539
NM_002137.4(HNRNPA2B1):c.842-15C>T
NM_002137.4(HNRNPA2B1):c.842-18A>G
NM_002137.4(HNRNPA2B1):c.842-20G>A
NM_002137.4(HNRNPA2B1):c.842-6T>A
NM_002137.4(HNRNPA2B1):c.842-8T>C rs756264854
NM_002137.4(HNRNPA2B1):c.842-9T>C
NM_002137.4(HNRNPA2B1):c.843A>C (p.Gly281=) rs1783126826
NM_002137.4(HNRNPA2B1):c.84C>T (p.Tyr28=) rs1196918778
NM_002137.4(HNRNPA2B1):c.853A>G (p.Ser285Gly) rs2128109903
NM_002137.4(HNRNPA2B1):c.864C>T (p.Tyr288=)
NM_002137.4(HNRNPA2B1):c.866A>G (p.Asn289Ser)
NM_002137.4(HNRNPA2B1):c.869A>T (p.Asp290Val) rs397515326
NM_002137.4(HNRNPA2B1):c.87C>T (p.Tyr29=)
NM_002137.4(HNRNPA2B1):c.882T>C (p.Tyr294=)
NM_002137.4(HNRNPA2B1):c.885C>T (p.Asn295=)
NM_002137.4(HNRNPA2B1):c.892C>T (p.Pro298Ser)
NM_002137.4(HNRNPA2B1):c.893C>T (p.Pro298Leu) rs2128109836
NM_002137.4(HNRNPA2B1):c.910A>G (p.Met304Val)
NM_002137.4(HNRNPA2B1):c.915G>A (p.Lys305=)
NM_002137.4(HNRNPA2B1):c.928GGT[1] (p.Gly311del) rs776731510
NM_002137.4(HNRNPA2B1):c.938G>A (p.Arg313Lys)
NM_002137.4(HNRNPA2B1):c.943A>G (p.Met315Val)
NM_002137.4(HNRNPA2B1):c.948_950del (p.Gly317del) rs745758500
NM_002137.4(HNRNPA2B1):c.964+9T>G
NM_002137.4(HNRNPA2B1):c.964+9del rs2128109698
NM_002137.4(HNRNPA2B1):c.965-13C>A
NM_002137.4(HNRNPA2B1):c.966A>G (p.Gly322=)
NM_002137.4(HNRNPA2B1):c.971A>G (p.Tyr324Cys)
NM_002137.4(HNRNPA2B1):c.980_986del (p.Gly327fs)
NM_002137.4(HNRNPA2B1):c.984_992del (p.329_331SGG[1]) rs754021381
NM_002137.4(HNRNPA2B1):c.996T>C (p.Ser332=)
NM_002137.4(HNRNPA2B1):c.996_997dup (p.Gly333fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.