ClinVar Miner

List of variants in gene BMPR2 reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.-924A>G rs1231549120 0.00527
NM_001204.7(BMPR2):c.*815C>T rs184240459 0.00153
NM_001204.7(BMPR2):c.*488C>A rs574109523 0.00111
NM_001204.7(BMPR2):c.*5946C>T rs192515585 0.00105
NM_001204.7(BMPR2):c.*4364C>T rs560040682 0.00103
NM_001204.7(BMPR2):c.*2833G>A rs77006932 0.00096
NM_001204.7(BMPR2):c.*2854T>G rs752981394 0.00078
NM_001204.7(BMPR2):c.*5252A>G rs528034202 0.00056
NM_001204.7(BMPR2):c.-575A>T rs550462760 0.00045
NM_001204.7(BMPR2):c.-434G>A rs766982703 0.00032
NM_001204.7(BMPR2):c.*7080G>A rs886055494 0.00021
NM_001204.7(BMPR2):c.-407G>T rs886055468 0.00019
NM_001204.7(BMPR2):c.*5624A>G rs570949250 0.00016
NM_001204.7(BMPR2):c.-702C>T rs886055466 0.00016
NM_001204.7(BMPR2):c.*4205G>A rs111387927 0.00014
NM_001204.7(BMPR2):c.*5914A>G rs754056961 0.00014
NM_001204.7(BMPR2):c.*6731G>A rs184637642 0.00014
NM_001204.7(BMPR2):c.-70G>T rs765364075 0.00014
NM_001204.7(BMPR2):c.-933G>A rs562633536 0.00014
NM_001204.7(BMPR2):c.*7273G>A rs774176078 0.00011
NM_001204.7(BMPR2):c.*1474T>C rs530519624 0.00010
NM_001204.7(BMPR2):c.*3415C>T rs374395945 0.00010
NM_001204.7(BMPR2):c.-930G>A rs3044175 0.00010
NM_001204.7(BMPR2):c.*7750G>T rs761151583 0.00009
NM_001204.7(BMPR2):c.*3354G>T rs886055481 0.00008
NM_001204.7(BMPR2):c.*5152A>G rs576001773 0.00008
NM_001204.7(BMPR2):c.*6820T>C rs1462794955 0.00007
NM_001204.7(BMPR2):c.*1268_*1269del rs886055476 0.00006
NM_001204.7(BMPR2):c.*2315G>A rs1359995578 0.00006
NM_001204.7(BMPR2):c.1284C>T (p.Ser428=) rs772817229 0.00006
NM_001204.7(BMPR2):c.*454G>A rs775197956 0.00005
NM_001204.7(BMPR2):c.*607C>T rs1243234213 0.00005
NM_001204.7(BMPR2):c.*2491T>C rs773528113 0.00004
NM_001204.7(BMPR2):c.*5246C>T rs540240230 0.00004
NM_001204.7(BMPR2):c.*6576T>C rs1393831268 0.00004
NM_001204.7(BMPR2):c.-344G>T rs981368884 0.00004
NM_001204.7(BMPR2):c.1698T>A (p.Ile566=) rs948158717 0.00004
NM_001204.7(BMPR2):c.2228A>G (p.Tyr743Cys) rs148257675 0.00004
NM_001204.7(BMPR2):c.*5154C>T rs886055488 0.00003
NM_001204.7(BMPR2):c.*6505C>G rs886055493 0.00003
NM_001204.7(BMPR2):c.*700T>C rs765518565 0.00003
NM_001204.7(BMPR2):c.2352C>T (p.Val784=) rs767560978 0.00003
NM_001204.7(BMPR2):c.*5522C>T rs886055491 0.00002
NM_001204.7(BMPR2):c.1512T>G (p.Leu504=) rs777417397 0.00002
NM_001204.7(BMPR2):c.1586G>A (p.Arg529His) rs752615120 0.00002
NM_001204.7(BMPR2):c.*121C>A rs954090260 0.00001
NM_001204.7(BMPR2):c.*1499C>T rs1457283471 0.00001
NM_001204.7(BMPR2):c.*2350A>G rs927915212 0.00001
NM_001204.7(BMPR2):c.*445T>C rs1688660171 0.00001
NM_001204.7(BMPR2):c.*4821G>C rs571330474 0.00001
NM_001204.7(BMPR2):c.*5025G>T rs1372730483 0.00001
NM_001204.7(BMPR2):c.*5038T>A rs886055486 0.00001
NM_001204.7(BMPR2):c.*6362G>T rs1688762424 0.00001
NM_001204.7(BMPR2):c.*6683G>A rs965622676 0.00001
NM_001204.7(BMPR2):c.-425G>T rs1377242364 0.00001
NM_001204.7(BMPR2):c.-871G>A rs886055463 0.00001
NM_001204.7(BMPR2):c.-922C>T rs886055462 0.00001
NM_001204.7(BMPR2):c.1414G>A (p.Ala472Thr) rs767730208 0.00001
NM_001204.7(BMPR2):c.261C>T (p.His87=) rs1234205940 0.00001
NM_001204.7(BMPR2):c.708C>T (p.Asn236=) rs886055470 0.00001
NM_001204.7(BMPR2):c.748C>T (p.Pro250Ser) rs770342652 0.00001
NM_001204.7(BMPR2):c.*1401C>T rs886055477
NM_001204.7(BMPR2):c.*1662T>G rs909798463
NM_001204.7(BMPR2):c.*2035C>T rs886055478
NM_001204.7(BMPR2):c.*2144G>T rs1015449559
NM_001204.7(BMPR2):c.*241C>T rs886055473
NM_001204.7(BMPR2):c.*2519A>G rs545428677
NM_001204.7(BMPR2):c.*2901del rs547796478
NM_001204.7(BMPR2):c.*2963T>C rs1266313093
NM_001204.7(BMPR2):c.*2994A>T rs942845113
NM_001204.7(BMPR2):c.*3017C>T rs1185963908
NM_001204.7(BMPR2):c.*3364G>A rs559295078
NM_001204.7(BMPR2):c.*3498dup rs368593665
NM_001204.7(BMPR2):c.*3554C>T rs886055483
NM_001204.7(BMPR2):c.*3646A>T rs967977677
NM_001204.7(BMPR2):c.*3794T>C rs886055484
NM_001204.7(BMPR2):c.*4034_*4037del rs200801079
NM_001204.7(BMPR2):c.*453C>A rs187966248
NM_001204.7(BMPR2):c.*4706T>G rs962898502
NM_001204.7(BMPR2):c.*491T>A rs1399980777
NM_001204.7(BMPR2):c.*5111dup rs886055487
NM_001204.7(BMPR2):c.*5198A>C rs886055489
NM_001204.7(BMPR2):c.*5408G>T rs886055490
NM_001204.7(BMPR2):c.*5535G>A rs546195086
NM_001204.7(BMPR2):c.*5781A>G rs886055492
NM_001204.7(BMPR2):c.*5808C>T rs1688749548
NM_001204.7(BMPR2):c.*5990A>C rs1688752812
NM_001204.7(BMPR2):c.*6142T>A rs1688756579
NM_001204.7(BMPR2):c.*686C>G rs886055475
NM_001204.7(BMPR2):c.*7097A>C rs1688773993
NM_001204.7(BMPR2):c.*7162del rs760686079
NM_001204.7(BMPR2):c.*734G>C rs1688664689
NM_001204.7(BMPR2):c.*7419G>C rs1688781367
NM_001204.7(BMPR2):c.*7463T>A rs1688782040
NM_001204.7(BMPR2):c.*7505T>G rs773296242
NM_001204.7(BMPR2):c.*77A>G rs886055472
NM_001204.7(BMPR2):c.*79del rs886055471
NM_001204.7(BMPR2):c.*896T>C rs1023371432
NM_001204.7(BMPR2):c.*952T>G rs1574509983
NM_001204.7(BMPR2):c.-313G>A rs1690166025
NM_001204.7(BMPR2):c.-594A>G rs886055467
NM_001204.7(BMPR2):c.-753C>T rs886055465
NM_001204.7(BMPR2):c.-837G>T rs886055464
NM_001204.7(BMPR2):c.-927_-924delinsGGCGGCGGCGGCG rs886055461
NM_001204.7(BMPR2):c.111A>G (p.Lys37=) rs1692287436
NM_001204.7(BMPR2):c.1611G>A (p.Val537=) rs1688544768
NM_001204.7(BMPR2):c.1835C>T (p.Thr612Ile) rs1688551157
NM_001204.7(BMPR2):c.198C>T (p.Cys66=) rs1692290741
NM_001204.7(BMPR2):c.2645G>T (p.Gly882Val) rs777302843
NM_001204.7(BMPR2):c.2807A>G (p.Gln936Arg) rs1688575030
NM_001204.7(BMPR2):c.798A>T (p.Arg266Ser) rs758709645

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