ClinVar Miner

List of variants in gene HNRNPA2B1 reported as likely benign 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: 168
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HGVS dbSNP gnomAD frequency
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.744C>T (p.Pro248=) rs141885504 0.00032
NM_002137.4(HNRNPA2B1):c.756A>C (p.Gly252=) rs199909637 0.00022
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.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.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.118-16C>T rs764779949 0.00003
NM_002137.4(HNRNPA2B1):c.475+13C>T rs768171787 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.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.721+10C>T rs768374617 0.00001
NM_002137.4(HNRNPA2B1):c.852A>G (p.Gly284=) rs757740786 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.987T>C (p.Ser329=) rs764119920 0.00001
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.228G>A (p.Gly76=)
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.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.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.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.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+7G>A rs201533402
NM_002137.4(HNRNPA2B1):c.475+9C>G
NM_002137.4(HNRNPA2B1):c.476-22_476-20del
NM_002137.4(HNRNPA2B1):c.476-8C>A
NM_002137.4(HNRNPA2B1):c.483A>G (p.Lys161=)
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.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.609C>T (p.Gly203=)
NM_002137.4(HNRNPA2B1):c.612T>C (p.Gly204=)
NM_002137.4(HNRNPA2B1):c.633A>G (p.Pro211=) rs752086550
NM_002137.4(HNRNPA2B1):c.651A>G (p.Gly217=)
NM_002137.4(HNRNPA2B1):c.651A>T (p.Gly217=)
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.659-16T>C
NM_002137.4(HNRNPA2B1):c.659-20C>G
NM_002137.4(HNRNPA2B1):c.66A>G (p.Glu22=) rs1783800258
NM_002137.4(HNRNPA2B1):c.687G>A (p.Gly229=)
NM_002137.4(HNRNPA2B1):c.696T>C (p.Tyr232=) rs2128119159
NM_002137.4(HNRNPA2B1):c.7-120T>G
NM_002137.4(HNRNPA2B1):c.7-132A>G
NM_002137.4(HNRNPA2B1):c.7-137dup rs759915055
NM_002137.4(HNRNPA2B1):c.7-141C>T
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.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.722-20A>G
NM_002137.4(HNRNPA2B1):c.735A>T (p.Gly245=)
NM_002137.4(HNRNPA2B1):c.813C>T (p.Tyr271=)
NM_002137.4(HNRNPA2B1):c.817G>A (p.Gly273Ser)
NM_002137.4(HNRNPA2B1):c.841+16G>A
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.864C>T (p.Tyr288=)
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.915G>A (p.Lys305=)
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.996T>C (p.Ser332=)

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