ClinVar Miner

List of variants in gene ACVR2B reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 241
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001106.4(ACVR2B):c.*3090C>T rs11926767 0.60530
NM_001106.4(ACVR2B):c.*4617C>G rs6599205 0.60080
NM_001106.4(ACVR2B):c.*911C>T rs6599204 0.60049
NM_001106.4(ACVR2B):c.333A>G (p.Glu111=) rs2070489 0.51926
NM_001106.4(ACVR2B):c.*8512A>C rs13072731 0.48169
NM_001106.4(ACVR2B):c.*2392T>C rs11914389 0.44215
NM_001106.4(ACVR2B):c.811-13T>C rs13097628 0.42596
NM_001106.4(ACVR2B):c.*7688G>A rs1058945 0.42327
NM_001106.4(ACVR2B):c.*744T>C rs7642472 0.42268
NM_001106.4(ACVR2B):c.1458C>T (p.Asn486=) rs1046048 0.42251
NM_001106.4(ACVR2B):c.*4995C>T rs7433277 0.42110
NM_001106.4(ACVR2B):c.*5002C>T rs2370840 0.38903
NM_001106.4(ACVR2B):c.*9319T>A rs77317995 0.22367
NM_001106.4(ACVR2B):c.*9471C>T rs6802919 0.09331
NM_001106.4(ACVR2B):c.*5256A>G rs62239941 0.05920
NM_001106.4(ACVR2B):c.*2280A>G rs17037775 0.05902
NM_001106.4(ACVR2B):c.*765G>A rs12636077 0.05884
NM_001106.4(ACVR2B):c.*6948G>A rs62241768 0.05874
NM_001106.4(ACVR2B):c.*501G>C rs61085191 0.05701
NM_001106.4(ACVR2B):c.*2900T>C rs62239939 0.05513
NM_001106.4(ACVR2B):c.*9473T>C rs62241769 0.04016
NM_001106.4(ACVR2B):c.*2425G>A rs76799785 0.03558
NM_001106.4(ACVR2B):c.*3316G>A rs6790964 0.02867
NM_001106.4(ACVR2B):c.*8141C>A rs114378912 0.01477
NM_001106.4(ACVR2B):c.*3748G>T rs2169551 0.01409
NM_001106.4(ACVR2B):c.1344+7G>T rs9876823 0.01406
NM_001106.4(ACVR2B):c.*7379G>A rs115907825 0.01331
NM_001106.4(ACVR2B):c.*87A>G rs78099173 0.01074
NM_001106.4(ACVR2B):c.*6173A>C rs76892072 0.00862
NM_001106.4(ACVR2B):c.*1957T>G rs115223892 0.00774
NM_001106.4(ACVR2B):c.*3127G>A rs139847458 0.00714
NM_001106.4(ACVR2B):c.*3956A>G rs77091454 0.00709
NM_001106.4(ACVR2B):c.1075-5C>T rs115155428 0.00657
NM_001106.4(ACVR2B):c.*8187G>A rs116523268 0.00605
NM_001106.4(ACVR2B):c.*476C>T rs79453833 0.00560
NM_001106.4(ACVR2B):c.*338C>G rs78458694 0.00515
NM_001106.4(ACVR2B):c.*6553G>A rs75944257 0.00499
NM_001106.4(ACVR2B):c.*4565A>G rs139385924 0.00466
NM_001106.4(ACVR2B):c.*4963T>A rs59630626 0.00437
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His) rs121434437 0.00398
NM_001106.4(ACVR2B):c.*1042G>A rs541363749 0.00379
NM_001106.4(ACVR2B):c.*2042C>T rs187282638 0.00378
NM_001106.4(ACVR2B):c.*592C>T rs80046041 0.00349
NM_001106.4(ACVR2B):c.*9469C>T rs533150798 0.00322
NM_001106.4(ACVR2B):c.*1375C>T rs193122447 0.00318
NM_001106.4(ACVR2B):c.*1613C>T rs539790661 0.00312
NM_001106.4(ACVR2B):c.811-12G>A rs144849143 0.00302
NM_001106.4(ACVR2B):c.*204C>T rs183119680 0.00301
NM_001106.4(ACVR2B):c.*394G>A rs115298793 0.00292
NM_001106.4(ACVR2B):c.*2154A>C rs553188524 0.00266
NM_001106.4(ACVR2B):c.*5700A>C rs141178727 0.00261
NM_001106.4(ACVR2B):c.*4218A>G rs146770581 0.00253
NM_001106.4(ACVR2B):c.*1815G>A rs188157499 0.00227
NM_001106.4(ACVR2B):c.*2025G>C rs141130205 0.00198
NM_001106.4(ACVR2B):c.*4061dup rs141938814 0.00185
NM_001106.4(ACVR2B):c.*8812C>T rs569525244 0.00175
NM_001106.4(ACVR2B):c.*15T>C rs45457192 0.00156
NM_001106.4(ACVR2B):c.*8026C>T rs139304868 0.00139
NM_001106.4(ACVR2B):c.*133A>T rs186832239 0.00135
NM_001106.4(ACVR2B):c.*1656A>T rs112507772 0.00126
NM_001106.4(ACVR2B):c.*8845T>C rs536572295 0.00125
NM_001106.4(ACVR2B):c.*2005C>T rs573846950 0.00115
NM_001106.4(ACVR2B):c.*7959G>T rs567353590 0.00102
NM_001106.4(ACVR2B):c.*4741T>C rs571225213 0.00098
NM_001106.4(ACVR2B):c.*427C>G rs543992989 0.00091
NM_001106.4(ACVR2B):c.*7413T>C rs148351980 0.00091
NM_001106.4(ACVR2B):c.*788G>A rs73825576 0.00088
NM_001106.4(ACVR2B):c.*1831G>A rs148198904 0.00086
NM_001106.4(ACVR2B):c.*6157G>A rs62239943 0.00086
NM_001106.4(ACVR2B):c.*7341A>G rs559554073 0.00086
NM_001106.4(ACVR2B):c.*483C>T rs189885640 0.00069
NM_001106.4(ACVR2B):c.*6156C>T rs184122552 0.00059
NM_001106.4(ACVR2B):c.*1785C>T rs763289242 0.00057
NM_001106.4(ACVR2B):c.*4423A>G rs184076956 0.00052
NM_001106.4(ACVR2B):c.*8037G>A rs528552658 0.00052
NM_001106.4(ACVR2B):c.*4984T>C rs536431557 0.00051
NM_001106.4(ACVR2B):c.*665G>A rs886058390 0.00048
NM_001106.4(ACVR2B):c.*9084T>G rs562430482 0.00048
NM_001106.4(ACVR2B):c.*106G>T rs555666683 0.00045
NM_001106.4(ACVR2B):c.*1429C>T rs188712951 0.00040
NM_001106.4(ACVR2B):c.*9317A>T rs796472366 0.00038
NM_001106.4(ACVR2B):c.1444C>T (p.Arg482Trp) rs144370188 0.00035
NM_001106.4(ACVR2B):c.*7915A>G rs757076818 0.00027
NM_001106.4(ACVR2B):c.1477C>T (p.Leu493Phe) rs150752796 0.00026
NM_001106.4(ACVR2B):c.*2833C>T rs144023018 0.00023
NM_001106.4(ACVR2B):c.*6206T>C rs543416608 0.00023
NM_001106.4(ACVR2B):c.*5264C>G rs191823241 0.00022
NM_001106.4(ACVR2B):c.*5469A>G rs774773658 0.00022
NM_001106.4(ACVR2B):c.*8439T>C rs773033487 0.00022
NM_001106.4(ACVR2B):c.*7619C>T rs563606458 0.00021
NM_001106.4(ACVR2B):c.*14G>A rs371443869 0.00019
NM_001106.4(ACVR2B):c.*3334G>T rs557881549 0.00019
NM_001106.4(ACVR2B):c.*1792C>T rs183877710 0.00017
NM_001106.4(ACVR2B):c.*2002C>T rs1003256877 0.00017
NM_001106.4(ACVR2B):c.*420A>G rs556691662 0.00017
NM_001106.4(ACVR2B):c.1269G>A (p.Ser423=) rs146067304 0.00017
NM_001106.4(ACVR2B):c.1452G>A (p.Ser484=) rs56280856 0.00016
NM_001106.4(ACVR2B):c.210C>T (p.Ile70=) rs145456109 0.00015
NM_001106.4(ACVR2B):c.*3570A>G rs528466104 0.00014
NM_001106.4(ACVR2B):c.*5587T>A rs187415200 0.00014
NM_001106.4(ACVR2B):c.*9731C>T rs535915454 0.00014
NM_001106.4(ACVR2B):c.527C>G (p.Pro176Arg) rs35882617 0.00013
NM_001106.4(ACVR2B):c.1410C>T (p.Ser470=) rs141985115 0.00012
NM_001106.4(ACVR2B):c.*2071G>A rs530276848 0.00011
NM_001106.4(ACVR2B):c.*3140C>T rs778515844 0.00011
NM_001106.4(ACVR2B):c.*5901C>T rs191838801 0.00011
NM_001106.4(ACVR2B):c.*7179G>A rs759863093 0.00011
NM_001106.4(ACVR2B):c.*147A>T rs890836309 0.00010
NM_001106.4(ACVR2B):c.*8561A>T rs200234620 0.00010
NM_001106.4(ACVR2B):c.*9476A>C rs773388280 0.00010
NM_001106.4(ACVR2B):c.*4610A>G rs886058410 0.00009
NM_001106.4(ACVR2B):c.*6043C>G rs886058416 0.00009
NM_001106.4(ACVR2B):c.*8980T>C rs534937647 0.00009
NM_001106.4(ACVR2B):c.*159T>A rs1006505230 0.00007
NM_001106.4(ACVR2B):c.*8492G>C rs747208009 0.00007
NM_001106.4(ACVR2B):c.*3401C>T rs951942227 0.00006
NM_001106.4(ACVR2B):c.*3758A>G rs185712997 0.00006
NM_001106.4(ACVR2B):c.*4486C>G rs886058409 0.00006
NM_001106.4(ACVR2B):c.*5096A>G rs886058413 0.00006
NM_001106.4(ACVR2B):c.*5201T>C rs757237546 0.00006
NM_001106.4(ACVR2B):c.*767C>T rs371324588 0.00006
NM_001106.4(ACVR2B):c.*8427T>G rs996651128 0.00006
NM_001106.4(ACVR2B):c.811-3C>T rs374268903 0.00006
NM_001106.4(ACVR2B):c.*1210T>C rs779733259 0.00004
NM_001106.4(ACVR2B):c.*1969A>C rs748956789 0.00004
NM_001106.4(ACVR2B):c.*3895T>G rs886058406 0.00004
NM_001106.4(ACVR2B):c.*4418A>G rs1156585591 0.00004
NM_001106.4(ACVR2B):c.*6638C>T rs552937102 0.00004
NM_001106.4(ACVR2B):c.*9150C>T rs886058429 0.00004
NM_001106.4(ACVR2B):c.147C>T (p.Cys49=) rs201686292 0.00004
NM_001106.4(ACVR2B):c.849A>G (p.Thr283=) rs766644651 0.00004
NM_001106.4(ACVR2B):c.*1251C>T rs886058392 0.00003
NM_001106.4(ACVR2B):c.*2318C>T rs369910327 0.00003
NM_001106.4(ACVR2B):c.*2791C>T rs577902511 0.00003
NM_001106.4(ACVR2B):c.*4699C>T rs551416404 0.00003
NM_001106.4(ACVR2B):c.*5086C>G rs544426895 0.00003
NM_001106.4(ACVR2B):c.*5888A>G rs886058414 0.00003
NM_001106.4(ACVR2B):c.*6071G>A rs1206302014 0.00003
NM_001106.4(ACVR2B):c.*696G>A rs886058391 0.00003
NM_001106.4(ACVR2B):c.*7110T>C rs886058419 0.00003
NM_001106.4(ACVR2B):c.*8294A>C rs2059811320 0.00003
NM_001106.4(ACVR2B):c.*8696G>A rs886058426 0.00003
NM_001106.4(ACVR2B):c.*9041T>C rs886058428 0.00003
NM_001106.4(ACVR2B):c.*9584C>G rs771331222 0.00003
NM_001106.4(ACVR2B):c.*146T>C rs886058388 0.00002
NM_001106.4(ACVR2B):c.*3169T>A rs149804558 0.00002
NM_001106.4(ACVR2B):c.*6372A>G rs1047964568 0.00002
NM_001106.4(ACVR2B):c.*6534C>G rs886058418 0.00002
NM_001106.4(ACVR2B):c.*9272C>G rs886058430 0.00002
NM_001106.4(ACVR2B):c.*9484T>G rs1194657876 0.00002
NM_001106.4(ACVR2B):c.*1265G>A rs1419881999 0.00001
NM_001106.4(ACVR2B):c.*1376G>A rs369336725 0.00001
NM_001106.4(ACVR2B):c.*1544C>T rs886058393 0.00001
NM_001106.4(ACVR2B):c.*1633C>G rs759592712 0.00001
NM_001106.4(ACVR2B):c.*2036G>T rs886058395 0.00001
NM_001106.4(ACVR2B):c.*2829C>T rs928732976 0.00001
NM_001106.4(ACVR2B):c.*3078C>T rs755897804 0.00001
NM_001106.4(ACVR2B):c.*3300C>T rs886058404 0.00001
NM_001106.4(ACVR2B):c.*4333T>G rs1710145815 0.00001
NM_001106.4(ACVR2B):c.*4366G>A rs886058408 0.00001
NM_001106.4(ACVR2B):c.*4650A>C rs886058411 0.00001
NM_001106.4(ACVR2B):c.*4726G>A rs948237461 0.00001
NM_001106.4(ACVR2B):c.*488G>T rs77738966 0.00001
NM_001106.4(ACVR2B):c.*5569C>T rs558425442 0.00001
NM_001106.4(ACVR2B):c.*6522T>G rs1710182974 0.00001
NM_001106.4(ACVR2B):c.*6847C>T rs1390838827 0.00001
NM_001106.4(ACVR2B):c.*7424A>G rs886058421 0.00001
NM_001106.4(ACVR2B):c.*7620G>A rs886058422 0.00001
NM_001106.4(ACVR2B):c.*8675dup rs747166046 0.00001
NM_001106.4(ACVR2B):c.*9737C>T rs549166852 0.00001
NM_001106.4(ACVR2B):c.*9763T>G rs1028780924 0.00001
NM_001106.4(ACVR2B):c.260+7C>G rs147683346 0.00001
NM_001106.4(ACVR2B):c.479A>T (p.Tyr160Phe) rs555828910 0.00001
NM_001106.4(ACVR2B):c.482G>A (p.Arg161Gln) rs572594763 0.00001
NM_001106.4(ACVR2B):c.*1020G>C rs1368195187
NM_001106.4(ACVR2B):c.*1041A>C rs7640050
NM_001106.4(ACVR2B):c.*1346_*1347del rs397989264
NM_001106.4(ACVR2B):c.*1574_*1579del rs886058394
NM_001106.4(ACVR2B):c.*166A>G rs1710057645
NM_001106.4(ACVR2B):c.*1891G>C rs541955988
NM_001106.4(ACVR2B):c.*1892G>A rs1710094200
NM_001106.4(ACVR2B):c.*1988C>T rs1710096175
NM_001106.4(ACVR2B):c.*2332_*2334del rs886058396
NM_001106.4(ACVR2B):c.*2359_*2361del rs59343196
NM_001106.4(ACVR2B):c.*2360_*2361dup rs59343196
NM_001106.4(ACVR2B):c.*2361dup rs59343196
NM_001106.4(ACVR2B):c.*2362_*2364del rs886058399
NM_001106.4(ACVR2B):c.*2364_*2365insC rs886058400
NM_001106.4(ACVR2B):c.*2392T>G rs11914389
NM_001106.4(ACVR2B):c.*2619C>T rs886058401
NM_001106.4(ACVR2B):c.*2758C>T rs886058402
NM_001106.4(ACVR2B):c.*2841dup rs886058403
NM_001106.4(ACVR2B):c.*3180T>C rs1710123880
NM_001106.4(ACVR2B):c.*3345A>C rs886058405
NM_001106.4(ACVR2B):c.*3345A>G rs886058405
NM_001106.4(ACVR2B):c.*342TTGT[1] rs559626026
NM_001106.4(ACVR2B):c.*3530C>T rs547610907
NM_001106.4(ACVR2B):c.*3712G>C rs1023576243
NM_001106.4(ACVR2B):c.*3714G>T rs928813
NM_001106.4(ACVR2B):c.*4026C>G rs1710141137
NM_001106.4(ACVR2B):c.*4085A>G rs1296317116
NM_001106.4(ACVR2B):c.*4608A>C rs1017095755
NM_001106.4(ACVR2B):c.*4793A>T rs1710153270
NM_001106.4(ACVR2B):c.*4890T>C rs886058412
NM_001106.4(ACVR2B):c.*48del rs151147030
NM_001106.4(ACVR2B):c.*5022C>G rs1368443374
NM_001106.4(ACVR2B):c.*5161A>G rs1710159684
NM_001106.4(ACVR2B):c.*5285A>G rs904816352
NM_001106.4(ACVR2B):c.*5767T>C rs954765503
NM_001106.4(ACVR2B):c.*5841C>T rs1710171301
NM_001106.4(ACVR2B):c.*5968CA[1] rs779498082
NM_001106.4(ACVR2B):c.*630T>C rs1326797889
NM_001106.4(ACVR2B):c.*6388T>G rs7374458
NM_001106.4(ACVR2B):c.*6389A>G rs1448073625
NM_001106.4(ACVR2B):c.*6465A>G rs886058417
NM_001106.4(ACVR2B):c.*668C>T rs1710069976
NM_001106.4(ACVR2B):c.*7227C>A rs886058420
NM_001106.4(ACVR2B):c.*7292T>C rs1267578308
NM_001106.4(ACVR2B):c.*7643G>A rs886058423
NM_001106.4(ACVR2B):c.*7719del rs746676726
NM_001106.4(ACVR2B):c.*8308C>G rs2059811349
NM_001106.4(ACVR2B):c.*8334del rs886058424
NM_001106.4(ACVR2B):c.*8714G>A rs140005030
NM_001106.4(ACVR2B):c.*8714G>C rs140005030
NM_001106.4(ACVR2B):c.*9038G>A rs886058427
NM_001106.4(ACVR2B):c.*9286A>G rs965431790
NM_001106.4(ACVR2B):c.*9317_*9318dup rs150324551
NM_001106.4(ACVR2B):c.*9317_*9318insT rs1553679291
NM_001106.4(ACVR2B):c.*9317_*9318insTAT rs1553679291
NM_001106.4(ACVR2B):c.*9318dup rs150324551
NM_001106.4(ACVR2B):c.*9319TA[8] rs1553679292
NM_001106.4(ACVR2B):c.*9398_*9399insATTA rs1553679325
NM_001106.4(ACVR2B):c.*9399T>C rs886058435
NM_001106.4(ACVR2B):c.*9399_*9435delinsATT rs886058433
NM_001106.4(ACVR2B):c.*9399_*9437delinsATT rs886058434
NM_001106.4(ACVR2B):c.*9443_*9469delinsT rs886058436
NM_001106.4(ACVR2B):c.*9711T>C rs1377005973
NM_001106.4(ACVR2B):c.*9783A>T rs2059826223
NM_001106.4(ACVR2B):c.1213+14C>T rs1710032107
NM_001106.4(ACVR2B):c.283G>C (p.Glu95Gln) rs886058385
NM_001106.4(ACVR2B):c.546C>T (p.Ser182=) rs886058386

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