ClinVar Miner

List of variants reported as uncertain significance for inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_002137.4(HNRNPA2B1):c.657T>C (p.Ser219=) rs370050080 0.00020
NM_002137.4(HNRNPA2B1):c.14A>G (p.Lys5Arg) rs751281272 0.00004
NM_002137.4(HNRNPA2B1):c.715C>T (p.Pro239Ser) rs1182485259 0.00004
NM_002137.4(HNRNPA2B1):c.476-3C>T rs370807816 0.00003
NM_002137.4(HNRNPA2B1):c.722-17G>A rs764968841 0.00003
NM_002137.4(HNRNPA2B1):c.745G>A (p.Gly249Ser) rs375157988 0.00003
NM_002137.4(HNRNPA2B1):c.938G>A (p.Arg313Lys) rs1321052921 0.00002
NM_002137.4(HNRNPA2B1):c.965-3T>C rs111258330 0.00002
NM_002137.4(HNRNPA2B1):c.475T>C (p.Leu159=) rs544243388 0.00001
NM_002137.4(HNRNPA2B1):c.581A>G (p.Asn194Ser) rs772251120 0.00001
NM_002137.4(HNRNPA2B1):c.638G>A (p.Ser213Asn) rs1377160953 0.00001
NM_002137.4(HNRNPA2B1):c.7-93C>T rs1204225273 0.00001
NM_002137.4(HNRNPA2B1):c.728A>G (p.Asn243Ser) rs1292889600 0.00001
NM_002137.4(HNRNPA2B1):c.866A>G (p.Asn289Ser) rs911715553 0.00001
NM_002137.4(HNRNPA2B1):c.902A>T (p.Tyr301Phe) rs573171238 0.00001
NM_002137.4(HNRNPA2B1):c.943A>G (p.Met315Val) rs372687249 0.00001
NM_002137.4(HNRNPA2B1):c.964+5T>G rs878989290 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.1000_1001dup (p.Tyr335fs)
NM_002137.4(HNRNPA2B1):c.172T>G (p.Ser58Ala)
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.233T>C (p.Val78Ala) rs2128123592
NM_002137.4(HNRNPA2B1):c.264+6C>A
NM_002137.4(HNRNPA2B1):c.265-75_614del rs2535785709
NM_002137.4(HNRNPA2B1):c.322_324del (p.Lys108del) rs2128122460
NM_002137.4(HNRNPA2B1):c.341A>C (p.His114Pro)
NM_002137.4(HNRNPA2B1):c.391A>T (p.Ile131Leu) rs769596479
NM_002137.4(HNRNPA2B1):c.451C>T (p.His151Tyr) rs2535794347
NM_002137.4(HNRNPA2B1):c.475+3A>G rs754074410
NM_002137.4(HNRNPA2B1):c.475+6T>A rs1783699263
NM_002137.4(HNRNPA2B1):c.476-16G>C rs546524344
NM_002137.4(HNRNPA2B1):c.476-19T>C rs769456701
NM_002137.4(HNRNPA2B1):c.476-3del rs761023632
NM_002137.4(HNRNPA2B1):c.484T>C (p.Tyr162His)
NM_002137.4(HNRNPA2B1):c.491C>T (p.Thr164Ile)
NM_002137.4(HNRNPA2B1):c.505A>G (p.Asn169Asp) rs1353165662
NM_002137.4(HNRNPA2B1):c.574G>A (p.Gly192Arg) rs2535788832
NM_002137.4(HNRNPA2B1):c.601C>T (p.Arg201Cys) rs1480889342
NM_002137.4(HNRNPA2B1):c.602G>A (p.Arg201His) rs755438446
NM_002137.4(HNRNPA2B1):c.625CCAGGA[1] (p.209PG[1]) rs756044930
NM_002137.4(HNRNPA2B1):c.644T>G (p.Phe215Cys)
NM_002137.4(HNRNPA2B1):c.655T>G (p.Ser219Ala) rs2535784703
NM_002137.4(HNRNPA2B1):c.657T>A (p.Ser219=) rs370050080
NM_002137.4(HNRNPA2B1):c.658+4A>G
NM_002137.4(HNRNPA2B1):c.659-3C>A rs2535771996
NM_002137.4(HNRNPA2B1):c.659-4A>G rs1562711082
NM_002137.4(HNRNPA2B1):c.667G>T (p.Gly223Cys) rs1408443734
NM_002137.4(HNRNPA2B1):c.676C>T (p.Arg226Cys) rs2128119204
NM_002137.4(HNRNPA2B1):c.7-115C>A rs2128124594
NM_002137.4(HNRNPA2B1):c.7-122dup
NM_002137.4(HNRNPA2B1):c.7-128_7-127del rs2128124605
NM_002137.4(HNRNPA2B1):c.7-133A>G
NM_002137.4(HNRNPA2B1):c.7-137C>T rs2535818132
NM_002137.4(HNRNPA2B1):c.700G>A (p.Gly234Arg) rs2128119149
NM_002137.4(HNRNPA2B1):c.722-9T>G
NM_002137.4(HNRNPA2B1):c.763GGA[1] (p.Gly256del) rs2128110727
NM_002137.4(HNRNPA2B1):c.770_772del (p.Tyr257_Gly258delinsCys)
NM_002137.4(HNRNPA2B1):c.778GGA[1] (p.Gly261del)
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) rs2535724152
NM_002137.4(HNRNPA2B1):c.830A>G (p.Asn277Ser) rs367958673
NM_002137.4(HNRNPA2B1):c.833A>G (p.Tyr278Cys) rs1181544777
NM_002137.4(HNRNPA2B1):c.853A>G (p.Ser285Gly) rs2128109903
NM_002137.4(HNRNPA2B1):c.892C>T (p.Pro298Ser) rs1234707634
NM_002137.4(HNRNPA2B1):c.910A>G (p.Met304Val) rs2535718236
NM_002137.4(HNRNPA2B1):c.928GGT[1] (p.Gly311del) rs776731510
NM_002137.4(HNRNPA2B1):c.948_950del (p.Gly317del) rs745758500
NM_002137.4(HNRNPA2B1):c.971A>G (p.Tyr324Cys) rs1193919522
NM_002137.4(HNRNPA2B1):c.980_986del (p.Gly327fs) rs1783016641
NM_002137.4(HNRNPA2B1):c.984_992del (p.329SGG[1]) rs754021381
NM_002137.4(HNRNPA2B1):c.996_997dup (p.Gly333fs) rs2535701576

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