ClinVar Miner

List of variants in gene ACVR2B reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 194
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001106.4(ACVR2B):c.*9473T>C rs62241769 0.04016
NM_001106.4(ACVR2B):c.*4565A>G rs139385924 0.00466
NM_001106.4(ACVR2B):c.*9469C>T rs533150798 0.00322
NM_001106.4(ACVR2B):c.*2154A>C rs553188524 0.00266
NM_001106.4(ACVR2B):c.*8812C>T rs569525244 0.00175
NM_001106.4(ACVR2B):c.*8845T>C rs536572295 0.00125
NM_001106.4(ACVR2B):c.*7959G>T rs567353590 0.00102
NM_001106.4(ACVR2B):c.*788G>A rs73825576 0.00088
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.*1785C>T rs763289242 0.00057
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.*9317A>T rs796472366 0.00038
NM_001106.4(ACVR2B):c.*7915A>G rs757076818 0.00027
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.*14G>A rs371443869 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.1269G>A (p.Ser423=) rs146067304 0.00017
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.*2071G>A rs530276848 0.00011
NM_001106.4(ACVR2B):c.*3140C>T rs778515844 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.410C>T (p.Thr137Met) rs199622012 0.00008
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.*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.*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.*9150C>T rs886058429 0.00004
NM_001106.4(ACVR2B):c.148G>A (p.Glu50Lys) rs371445433 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.143G>T (p.Arg48Leu) rs752059653 0.00003
NM_001106.4(ACVR2B):c.*146T>C rs886058388 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.*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.*9763T>G rs1028780924 0.00001
NM_001106.4(ACVR2B):c.1445G>A (p.Arg482Gln) rs747041699 0.00001
NM_001106.4(ACVR2B):c.1480G>A (p.Val494Ile) rs121434438 0.00001
NM_001106.4(ACVR2B):c.1532G>A (p.Ser511Asn) rs1559656538 0.00001
NM_001106.4(ACVR2B):c.479A>T (p.Tyr160Phe) rs555828910 0.00001
NM_001106.4(ACVR2B):c.775G>C (p.Val259Leu) rs540729310 0.00001
NM_001106.4(ACVR2B):c.925C>T (p.Arg309Cys) rs769170500 0.00001
NM_001106.4(ACVR2B):c.926G>A (p.Arg309His) rs138692827 0.00001
NM_001106.4(ACVR2B):c.960-3C>T rs748795436 0.00001
NM_001106.4(ACVR2B):c.*1020G>C rs1368195187
NM_001106.4(ACVR2B):c.*1574_*1579del rs886058394
NM_001106.4(ACVR2B):c.*166A>G rs1710057645
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.*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.*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.*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.*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.*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.100G>A (p.Ala34Thr)
NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys) rs1559655653
NM_001106.4(ACVR2B):c.1148G>A (p.Arg383His) rs1710030273
NM_001106.4(ACVR2B):c.1151T>C (p.Ile384Thr)
NM_001106.4(ACVR2B):c.1156A>C (p.Met386Leu) rs1346683151
NM_001106.4(ACVR2B):c.1186C>G (p.Leu396Val)
NM_001106.4(ACVR2B):c.1195C>G (p.Arg399Gly) rs1575589844
NM_001106.4(ACVR2B):c.1213+14C>T rs1710032107
NM_001106.4(ACVR2B):c.1213G>A (p.Gly405Arg)
NM_001106.4(ACVR2B):c.1219G>A (p.Val407Met) rs750062087
NM_001106.4(ACVR2B):c.1252A>C (p.Ile418Leu)
NM_001106.4(ACVR2B):c.1252A>T (p.Ile418Phe)
NM_001106.4(ACVR2B):c.1451C>T (p.Ser484Leu)
NM_001106.4(ACVR2B):c.1489G>A (p.Val497Met)
NM_001106.4(ACVR2B):c.1534A>G (p.Ile512Val)
NM_001106.4(ACVR2B):c.260+1G>C
NM_001106.4(ACVR2B):c.283G>C (p.Glu95Gln) rs886058385
NM_001106.4(ACVR2B):c.343C>T (p.His115Tyr) rs2125722719
NM_001106.4(ACVR2B):c.365C>T (p.Pro122Leu)
NM_001106.4(ACVR2B):c.383C>G (p.Pro128Arg)
NM_001106.4(ACVR2B):c.406C>T (p.Leu136Phe) rs2125722964
NM_001106.4(ACVR2B):c.481C>T (p.Arg161Trp) rs375094633
NM_001106.4(ACVR2B):c.488G>A (p.Arg163His)
NM_001106.4(ACVR2B):c.542C>T (p.Pro181Leu)
NM_001106.4(ACVR2B):c.546C>T (p.Ser182=) rs886058386
NM_001106.4(ACVR2B):c.553G>C (p.Val185Leu) rs1279855513
NM_001106.4(ACVR2B):c.553G>T (p.Val185Leu)
NM_001106.4(ACVR2B):c.578T>G (p.Leu193Arg)
NM_001106.4(ACVR2B):c.614G>A (p.Trp205Ter)
NM_001106.4(ACVR2B):c.61C>T (p.Arg21Cys)
NM_001106.4(ACVR2B):c.62G>A (p.Arg21His)
NM_001106.4(ACVR2B):c.652A>T (p.Ile218Phe)
NM_001106.4(ACVR2B):c.666+2T>C
NM_001106.4(ACVR2B):c.738G>C (p.Gln246His)
NM_001106.4(ACVR2B):c.772G>A (p.Glu258Lys)
NM_001106.4(ACVR2B):c.930C>T (p.Gly310=)
NM_001106.4(ACVR2B):c.979G>A (p.Val327Ile) rs774784440

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.