ClinVar Miner

List of variants reported as uncertain significance 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:
ClinVar version:
Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_007126.5(VCP):c.*1040T>C rs188935092 0.00171
NM_007126.5(VCP):c.*367G>A rs768675930 0.00043
NM_007126.5(VCP):c.*700C>A rs537730311 0.00035
NM_007126.5(VCP):c.-250C>T rs886063894 0.00023
NM_002137.4(HNRNPA2B1):c.657T>C (p.Ser219=) rs370050080 0.00020
NM_007126.5(VCP):c.*347C>T rs886063888 0.00013
NM_007126.5(VCP):c.*382C>T rs749381324 0.00011
NM_007126.5(VCP):c.-215A>G rs886063893 0.00011
NM_007126.5(VCP):c.1194+3G>A rs183223259 0.00008
NM_007126.5(VCP):c.*172C>G rs886063890 0.00006
NM_007126.5(VCP):c.*217G>T rs981870646 0.00006
NM_007126.5(VCP):c.*64C>T rs553370942 0.00006
NM_007126.5(VCP):c.1482+4G>A rs768327051 0.00006
NM_007126.4(VCP):c.-370G>A rs886063895 0.00005
NM_007126.5(VCP):c.*63G>A rs969638105 0.00005
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.745G>A (p.Gly249Ser) rs375157988 0.00004
NM_007126.5(VCP):c.1242G>A (p.Leu414=) rs375262833 0.00004
NM_007126.5(VCP):c.1360-6T>C rs370296303 0.00004
NM_002137.4(HNRNPA2B1):c.476-3C>T rs370807816 0.00003
NM_002137.4(HNRNPA2B1):c.581A>G (p.Asn194Ser) rs772251120 0.00002
NM_007126.5(VCP):c.233C>G (p.Ser78Cys) rs1252437282 0.00002
NM_007126.5(VCP):c.237T>A (p.Asp79Glu) rs746810092 0.00002
NM_007126.5(VCP):c.2397C>G (p.Asp799Glu) rs1329151473 0.00002
NM_007126.5(VCP):c.811+5G>C rs1356010891 0.00002
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.902A>T (p.Tyr301Phe) rs573171238 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_007126.5(VCP):c.*184G>A rs886063889 0.00001
NM_007126.5(VCP):c.*885G>A rs925146670 0.00001
NM_007126.5(VCP):c.1162A>G (p.Met388Val) rs761895823 0.00001
NM_007126.5(VCP):c.1211A>C (p.His404Pro) rs1359620830 0.00001
NM_007126.5(VCP):c.1294C>G (p.Leu432Val) rs771751916 0.00001
NM_007126.5(VCP):c.130-3C>T rs767838037 0.00001
NM_007126.5(VCP):c.1327A>C (p.Asn443His) rs770514866 0.00001
NM_007126.5(VCP):c.1402G>A (p.Val468Met) rs779392075 0.00001
NM_007126.5(VCP):c.1459C>T (p.Arg487Cys) rs752765916 0.00001
NM_007126.5(VCP):c.1768A>G (p.Ile590Val) rs1255802734 0.00001
NM_007126.5(VCP):c.1973A>C (p.Lys658Thr) rs1284380722 0.00001
NM_007126.5(VCP):c.1985G>A (p.Arg662His) rs762185724 0.00001
NM_007126.5(VCP):c.1996G>A (p.Val666Ile) rs754268174 0.00001
NM_007126.5(VCP):c.2126G>A (p.Arg709Gln) rs746617777 0.00001
NM_007126.5(VCP):c.2132G>A (p.Arg711Gln) rs779670266 0.00001
NM_007126.5(VCP):c.2194C>T (p.Arg732Cys) rs758602597 0.00001
NM_007126.5(VCP):c.303-3C>T rs1183711292 0.00001
NM_007126.5(VCP):c.331G>A (p.Gly111Ser) rs752038734 0.00001
NM_007126.5(VCP):c.335A>G (p.Lys112Arg) rs766787045 0.00001
NM_007126.5(VCP):c.41C>T (p.Thr14Ile) rs1219381953 0.00001
NM_007126.5(VCP):c.446-4G>A rs370700002 0.00001
NM_007126.5(VCP):c.451A>G (p.Ile151Val) rs367881889 0.00001
NM_007126.5(VCP):c.62A>G (p.Asn21Ser) rs1409460709 0.00001
NM_007126.5(VCP):c.697A>G (p.Ile233Val) rs750335399 0.00001
NM_007126.5(VCP):c.73C>T (p.Arg25Trp) rs920962883 0.00001
NM_031157.4(HNRNPA1):c.1099G>A (p.Gly367Ser) rs772603507 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
NC_000009.11:g.(?_32453279)_(35068379_?)dup
NC_000009.11:g.(?_32453279)_(37785041_?)dup
NC_000009.11:g.(?_34458994)_(35072710_?)dup
NM_002137.4(HNRNPA2B1):c.1001del (p.Gly334fs)
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.265-75_614del
NM_002137.4(HNRNPA2B1):c.322_324del (p.Lys108del) rs2128122460
NM_002137.4(HNRNPA2B1):c.391A>T (p.Ile131Leu)
NM_002137.4(HNRNPA2B1):c.451C>T (p.His151Tyr)
NM_002137.4(HNRNPA2B1):c.475+3A>G
NM_002137.4(HNRNPA2B1):c.475+6T>A rs1783699263
NM_002137.4(HNRNPA2B1):c.475T>C (p.Leu159=) rs544243388
NM_002137.4(HNRNPA2B1):c.476-16G>C
NM_002137.4(HNRNPA2B1):c.476-19T>C
NM_002137.4(HNRNPA2B1):c.476-3del rs761023632
NM_002137.4(HNRNPA2B1):c.476-4C>A
NM_002137.4(HNRNPA2B1):c.505A>G (p.Asn169Asp) rs1353165662
NM_002137.4(HNRNPA2B1):c.574G>A (p.Gly192Arg)
NM_002137.4(HNRNPA2B1):c.601C>T (p.Arg201Cys) rs1480889342
NM_002137.4(HNRNPA2B1):c.602G>A (p.Arg201His)
NM_002137.4(HNRNPA2B1):c.625CCAGGA[1] (p.209PG[1]) rs756044930
NM_002137.4(HNRNPA2B1):c.638G>A (p.Ser213Asn)
NM_002137.4(HNRNPA2B1):c.655T>G (p.Ser219Ala)
NM_002137.4(HNRNPA2B1):c.657T>A (p.Ser219=) rs370050080
NM_002137.4(HNRNPA2B1):c.659-3C>A
NM_002137.4(HNRNPA2B1):c.659-4A>G rs1562711082
NM_002137.4(HNRNPA2B1):c.667G>T (p.Gly223Cys)
NM_002137.4(HNRNPA2B1):c.676C>T (p.Arg226Cys) rs2128119204
NM_002137.4(HNRNPA2B1):c.7-115C>A rs2128124594
NM_002137.4(HNRNPA2B1):c.7-119_7-118del
NM_002137.4(HNRNPA2B1):c.7-128_7-127del rs2128124605
NM_002137.4(HNRNPA2B1):c.7-137C>T
NM_002137.4(HNRNPA2B1):c.700G>A (p.Gly234Arg) rs2128119149
NM_002137.4(HNRNPA2B1):c.722-17G>A
NM_002137.4(HNRNPA2B1):c.728A>G (p.Asn243Ser)
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.833A>G (p.Tyr278Cys)
NM_002137.4(HNRNPA2B1):c.853A>G (p.Ser285Gly) rs2128109903
NM_002137.4(HNRNPA2B1):c.866A>G (p.Asn289Ser)
NM_002137.4(HNRNPA2B1):c.892C>T (p.Pro298Ser)
NM_002137.4(HNRNPA2B1):c.910A>G (p.Met304Val)
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.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.996_997dup (p.Gly333fs)
NM_007126.5(VCP):c.*216G>A rs567542622
NM_007126.5(VCP):c.*788G>A rs886063887
NM_007126.5(VCP):c.-53C>T rs369830702
NM_007126.5(VCP):c.1031T>C (p.Met344Thr)
NM_007126.5(VCP):c.1058T>C (p.Ile353Thr)
NM_007126.5(VCP):c.1106T>C (p.Ile369Thr) rs1828723406
NM_007126.5(VCP):c.1115C>T (p.Pro372Leu)
NM_007126.5(VCP):c.1144C>G (p.Gln382Glu) rs1828722725
NM_007126.5(VCP):c.1156A>G (p.Lys386Glu) rs1563977665
NM_007126.5(VCP):c.1160A>G (p.Asn387Ser)
NM_007126.5(VCP):c.1180G>A (p.Val394Met) rs1587122661
NM_007126.5(VCP):c.1186C>G (p.Leu396Val) rs2131031813
NM_007126.5(VCP):c.1197A>G (p.Val399=) rs886044575
NM_007126.5(VCP):c.1198G>T (p.Ala400Ser)
NM_007126.5(VCP):c.11G>A (p.Gly4Glu)
NM_007126.5(VCP):c.1202A>T (p.Asn401Ile) rs148329626
NM_007126.5(VCP):c.1265C>G (p.Ala422Gly) rs2131031304
NM_007126.5(VCP):c.1283A>T (p.Asp428Val) rs2131031300
NM_007126.5(VCP):c.1293C>T (p.Asp431=) rs1828712869
NM_007126.5(VCP):c.130-9T>C rs1828868223
NM_007126.5(VCP):c.1307C>T (p.Thr436Ile)
NM_007126.5(VCP):c.1309A>G (p.Ile437Val)
NM_007126.5(VCP):c.1310T>C (p.Ile437Thr)
NM_007126.5(VCP):c.1318G>A (p.Glu440Lys) rs955652521
NM_007126.5(VCP):c.1324A>G (p.Met442Val) rs1828712085
NM_007126.5(VCP):c.1357C>T (p.Arg453Trp) rs755519450
NM_007126.5(VCP):c.1433A>G (p.Asp478Gly) rs1554668345
NM_007126.5(VCP):c.1465C>T (p.Leu489=)
NM_007126.5(VCP):c.1528C>T (p.Pro510Ser)
NM_007126.5(VCP):c.1637A>G (p.Glu546Gly)
NM_007126.5(VCP):c.1696-34_1716dup rs2131029563
NM_007126.5(VCP):c.1696-3C>T
NM_007126.5(VCP):c.1699C>T (p.Arg567Cys)
NM_007126.5(VCP):c.1790C>T (p.Ala597Val) rs890637602
NM_007126.5(VCP):c.1837A>G (p.Thr613Ala) rs2131029426
NM_007126.5(VCP):c.185A>G (p.Lys62Arg) rs886063892
NM_007126.5(VCP):c.1864G>T (p.Ala622Ser) rs1828681453
NM_007126.5(VCP):c.1915C>A (p.Leu639Ile)
NM_007126.5(VCP):c.194G>A (p.Arg65Gln)
NM_007126.5(VCP):c.1972A>C (p.Lys658Gln)
NM_007126.5(VCP):c.1984C>T (p.Arg662Cys) rs765795425
NM_007126.5(VCP):c.1993C>T (p.Pro665Ser) rs2131029246
NM_007126.5(VCP):c.2004+8C>T
NM_007126.5(VCP):c.2014T>G (p.Leu672Val) rs757829124
NM_007126.5(VCP):c.2036C>T (p.Thr679Ile)
NM_007126.5(VCP):c.2110G>A (p.Glu704Lys)
NM_007126.5(VCP):c.2111A>C (p.Glu704Ala)
NM_007126.5(VCP):c.211G>A (p.Val71Ile)
NM_007126.5(VCP):c.2134G>C (p.Glu712Gln)
NM_007126.5(VCP):c.2143A>G (p.Thr715Ala)
NM_007126.5(VCP):c.2190G>T (p.Glu730Asp)
NM_007126.5(VCP):c.2221C>T (p.Arg741Cys)
NM_007126.5(VCP):c.2228C>T (p.Ala743Val) rs771662410
NM_007126.5(VCP):c.2233C>T (p.Arg745Cys) rs2131026595
NM_007126.5(VCP):c.2234G>A (p.Arg745His)
NM_007126.5(VCP):c.2242A>T (p.Ser748Cys) rs1828632660
NM_007126.5(VCP):c.2266G>A (p.Glu756Lys) rs1587117319
NM_007126.5(VCP):c.230G>A (p.Cys77Tyr)
NM_007126.5(VCP):c.2315+6T>C
NM_007126.5(VCP):c.2345G>C (p.Gly782Ala) rs1828626335
NM_007126.5(VCP):c.2345G>T (p.Gly782Val) rs1828626335
NM_007126.5(VCP):c.2381G>A (p.Ser794Asn)
NM_007126.5(VCP):c.244A>C (p.Ile82Leu)
NM_007126.5(VCP):c.265C>T (p.Arg89Trp) rs1828865320
NM_007126.5(VCP):c.266G>A (p.Arg89Gln)
NM_007126.5(VCP):c.268A>G (p.Asn90Asp) rs1828865209
NM_007126.5(VCP):c.273C>G (p.Asn91Lys) rs1563980966
NM_007126.5(VCP):c.298A>G (p.Ile100Val)
NM_007126.5(VCP):c.30T>A (p.Asp10Glu) rs1828874096
NM_007126.5(VCP):c.310C>T (p.Pro104Ser) rs1186937475
NM_007126.5(VCP):c.313T>C (p.Cys105Arg) rs1828842736
NM_007126.5(VCP):c.320A>T (p.Asp107Val) rs1563980440
NM_007126.5(VCP):c.355A>G (p.Ile119Val)
NM_007126.5(VCP):c.365C>T (p.Thr122Ile) rs2131038987
NM_007126.5(VCP):c.367G>A (p.Val123Met) rs2131038977
NM_007126.5(VCP):c.367G>C (p.Val123Leu)
NM_007126.5(VCP):c.374G>A (p.Gly125Asp) rs1563980403
NM_007126.5(VCP):c.377T>G (p.Ile126Ser) rs1828841085
NM_007126.5(VCP):c.380C>T (p.Thr127Ile)
NM_007126.5(VCP):c.382G>C (p.Gly128Arg)
NM_007126.5(VCP):c.383G>C (p.Gly128Ala) rs1554668979
NM_007126.5(VCP):c.397G>T (p.Val133Leu)
NM_007126.5(VCP):c.400T>C (p.Tyr134His)
NM_007126.5(VCP):c.401A>G (p.Tyr134Cys) rs1828840466
NM_007126.5(VCP):c.401A>T (p.Tyr134Phe)
NM_007126.5(VCP):c.407A>C (p.Lys136Thr)
NM_007126.5(VCP):c.445+8C>G
NM_007126.5(VCP):c.446-4_446-3delinsAT rs1828808684
NM_007126.5(VCP):c.453T>G (p.Ile151Met) rs1828808459
NM_007126.5(VCP):c.460G>T (p.Val154Phe) rs1587127201
NM_007126.5(VCP):c.467G>T (p.Gly156Val)
NM_007126.5(VCP):c.479C>T (p.Ala160Val) rs1554668804
NM_007126.5(VCP):c.486G>C (p.Glu162Asp)
NM_007126.5(VCP):c.487T>A (p.Phe163Ile)
NM_007126.5(VCP):c.512G>A (p.Ser171Asn) rs200911363
NM_007126.5(VCP):c.512G>T (p.Ser171Ile) rs200911363
NM_007126.5(VCP):c.523A>G (p.Ile175Val) rs1828806031
NM_007126.5(VCP):c.563C>T (p.Pro188Leu)
NM_007126.5(VCP):c.565A>G (p.Ile189Val)
NM_007126.5(VCP):c.577-2A>G rs1828784075
NM_007126.5(VCP):c.584A>G (p.Glu195Gly)
NM_007126.5(VCP):c.591C>G (p.Ser197=) rs866003333
NM_007126.5(VCP):c.605G>A (p.Gly202Glu)
NM_007126.5(VCP):c.636G>C (p.Gln212His)
NM_007126.5(VCP):c.648A>G (p.Ile216Met) rs1828783140
NM_007126.5(VCP):c.677A>T (p.His226Leu) rs2131035134
NM_007126.5(VCP):c.722T>C (p.Ile241Thr)
NM_007126.5(VCP):c.760A>T (p.Ile254Phe)
NM_007126.5(VCP):c.767G>A (p.Arg256Gln) rs1828757317
NM_007126.5(VCP):c.792CTT[3] (p.Phe267del)
NM_007126.5(VCP):c.794T>C (p.Phe265Ser) rs1828756507
NM_007126.5(VCP):c.810T>C (p.Asn270=) rs1372175418
NM_007126.5(VCP):c.811+2_811+3inv
NM_007126.5(VCP):c.82G>A (p.Val28Ile) rs1480586527
NM_007126.5(VCP):c.84T>A (p.Val28=) rs1587130660
NM_007126.5(VCP):c.94A>G (p.Ile32Val) rs1828872947
NM_007126.5(VCP):c.995T>C (p.Met332Thr) rs1828737891
NM_031157.4(HNRNPA1):c.240_243del (p.Asp80fs) rs2137041785
NM_031157.4(HNRNPA1):c.743G>A (p.Gly248Asp)
NM_145868.2(ANXA11):c.1089G>A (p.Glu363=)

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