ClinVar Miner

List of variants in gene BMPR1A reported by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
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Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.435G>A (p.Pro145=) rs11818239 0.04296
NM_004329.3(BMPR1A):c.1342+6A>G rs55763614 0.02404
NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=) rs35572415 0.01512
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=) rs55992440 0.00257
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=) rs56108371 0.00192
NM_004329.3(BMPR1A):c.1299C>T (p.Phe433=) rs150946485 0.00153
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=) rs142775086 0.00136
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=) rs55845713 0.00089
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_004329.3(BMPR1A):c.676-6A>C rs186999445 0.00014
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=) rs377412651 0.00011
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser) rs142454490 0.00011
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met) rs55932635 0.00009
NM_004329.3(BMPR1A):c.33G>A (p.Leu11=) rs535411352 0.00009
NM_004329.3(BMPR1A):c.478A>G (p.Met160Val) rs145101532 0.00007
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val) rs200951235 0.00007
NM_004329.3(BMPR1A):c.1401C>T (p.Tyr467=) rs149787558 0.00004
NM_004329.3(BMPR1A):c.1474-10T>C rs369633360 0.00004
NM_004329.3(BMPR1A):c.563G>A (p.Arg188His) rs749780872 0.00004
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578 0.00004
NM_004329.3(BMPR1A):c.1596C>G (p.Ile532Met) rs201345248 0.00003
NM_004329.3(BMPR1A):c.437T>C (p.Phe146Ser) rs587778112 0.00003
NM_004329.3(BMPR1A):c.1048T>C (p.Tyr350His) rs749571434 0.00002
NM_004329.3(BMPR1A):c.1068C>T (p.Pro356=) rs759520915 0.00002
NM_004329.3(BMPR1A):c.1300G>A (p.Gly434Ser) rs587780108 0.00002
NM_004329.3(BMPR1A):c.230+7A>G rs186530845 0.00002
NM_004329.3(BMPR1A):c.27A>G (p.Arg9=) rs751420248 0.00002
NM_004329.3(BMPR1A):c.731G>A (p.Arg244Gln) rs147971049 0.00002
NM_004329.3(BMPR1A):c.765C>T (p.Gly255=) rs786201114 0.00002
NM_004329.3(BMPR1A):c.-10C>T rs1589757001 0.00001
NM_004329.3(BMPR1A):c.-6T>C rs1047677696 0.00001
NM_004329.3(BMPR1A):c.1058A>G (p.Gln353Arg) rs1405441693 0.00001
NM_004329.3(BMPR1A):c.1153G>A (p.Val385Ile) rs1060503396 0.00001
NM_004329.3(BMPR1A):c.1191C>G (p.Pro397=) rs751078831 0.00001
NM_004329.3(BMPR1A):c.1206G>A (p.Val402=) rs1843665394 0.00001
NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn) rs587781522 0.00001
NM_004329.3(BMPR1A):c.1324C>T (p.Arg442Cys) rs587782496 0.00001
NM_004329.3(BMPR1A):c.1362A>G (p.Gln454=) rs764090248 0.00001
NM_004329.3(BMPR1A):c.1398A>C (p.Ser466=) rs56410735 0.00001
NM_004329.3(BMPR1A):c.1412G>A (p.Arg471His) rs779371501 0.00001
NM_004329.3(BMPR1A):c.1481G>A (p.Arg494Gln) rs1204089728 0.00001
NM_004329.3(BMPR1A):c.1536C>T (p.Leu512=) rs758796892 0.00001
NM_004329.3(BMPR1A):c.1549A>G (p.Ile517Val) rs754607465 0.00001
NM_004329.3(BMPR1A):c.372T>C (p.Cys124=) rs755028781 0.00001
NM_004329.3(BMPR1A):c.418C>T (p.Pro140Ser) rs138478597 0.00001
NM_004329.3(BMPR1A):c.559C>T (p.Arg187Cys) rs587782231 0.00001
NM_004329.3(BMPR1A):c.59G>A (p.Arg20His) rs759014147 0.00001
NM_004329.3(BMPR1A):c.5C>T (p.Pro2Leu) rs143248687 0.00001
NM_004329.3(BMPR1A):c.676-4A>G rs929042482 0.00001
NM_004329.3(BMPR1A):c.676G>T (p.Val226Phe) rs587780110 0.00001
NM_004329.3(BMPR1A):c.682C>A (p.Arg228=) rs587782682 0.00001
NM_004329.3(BMPR1A):c.732A>G (p.Arg244=) rs1554890761 0.00001
NM_004329.3(BMPR1A):c.749T>C (p.Met250Thr) rs587780783 0.00001
NM_004329.3(BMPR1A):c.761G>A (p.Arg254His) rs766908700 0.00001
NM_004329.3(BMPR1A):c.774G>A (p.Val258=) rs540411494 0.00001
NM_004329.3(BMPR1A):c.818G>A (p.Arg273Gln) rs762178061 0.00001
NM_004329.3(BMPR1A):c.975A>G (p.Thr325=) rs974541270 0.00001
NM_004329.3(BMPR1A):c.987A>C (p.Arg329Ser) rs753521037 0.00001
NM_004329.3(BMPR1A):c.995T>C (p.Leu332Pro) rs1064793886 0.00001
GRCh37/hg19 10q23.2(chr10:88523988-88547531)x1
NM_004329.3(BMPR1A):c.1057C>T (p.Gln353Ter) rs2133592454
NM_004329.3(BMPR1A):c.1098A>C (p.Lys366Asn) rs1060503397
NM_004329.3(BMPR1A):c.1230C>G (p.Pro410=) rs200642188
NM_004329.3(BMPR1A):c.1330T>C (p.Cys444Arg) rs774061725
NM_004329.3(BMPR1A):c.133_134del (p.Glu45fs) rs1564714804
NM_004329.3(BMPR1A):c.1395G>A (p.Pro465=) rs55845713
NM_004329.3(BMPR1A):c.1439G>A (p.Arg480Gln) rs535109719
NM_004329.3(BMPR1A):c.1459T>A (p.Trp487Arg) rs112883778
NM_004329.3(BMPR1A):c.1474-11_1474-10del rs1447308562
NM_004329.3(BMPR1A):c.1529C>G (p.Ser510Cys) rs1843700007
NM_004329.3(BMPR1A):c.1539A>T (p.Thr513=) rs780244868
NM_004329.3(BMPR1A):c.209A>T (p.Asp70Val) rs1060503394
NM_004329.3(BMPR1A):c.231-9C>T rs763313220
NM_004329.3(BMPR1A):c.239G>T (p.Gly80Val) rs1589764265
NM_004329.3(BMPR1A):c.241C>T (p.His81Tyr) rs953797046
NM_004329.3(BMPR1A):c.283A>G (p.Thr95Ala) rs1564715471
NM_004329.3(BMPR1A):c.297G>T (p.Gly99=) rs1251509897
NM_004329.3(BMPR1A):c.373del (p.Cys125fs) rs1589768027
NM_004329.3(BMPR1A):c.39del (p.Tyr14fs) rs1564710641
NM_004329.3(BMPR1A):c.402G>C (p.Leu134Phe) rs2133454421
NM_004329.3(BMPR1A):c.430+10C>T rs863224395
NM_004329.3(BMPR1A):c.455del (p.Arg152fs) rs1843286694
NM_004329.3(BMPR1A):c.49A>C (p.Ile17Leu) rs778886055
NM_004329.3(BMPR1A):c.505A>T (p.Ile169Phe) rs878854668
NM_004329.3(BMPR1A):c.526T>C (p.Tyr176His) rs1564717948
NM_004329.3(BMPR1A):c.603A>G (p.Pro201=) rs2133545231
NM_004329.3(BMPR1A):c.620A>G (p.Lys207Arg) rs1554890228
NM_004329.3(BMPR1A):c.66A>C (p.Gln22His) rs786204152
NM_004329.3(BMPR1A):c.675+8A>G rs1554890236
NM_004329.3(BMPR1A):c.676-6A>G rs186999445
NM_004329.3(BMPR1A):c.712C>G (p.Arg238Gly) rs747728399
NM_004329.3(BMPR1A):c.712C>T (p.Arg238Trp) rs747728399
NM_004329.3(BMPR1A):c.729C>T (p.Gly243=) rs770821763
NM_004329.3(BMPR1A):c.730C>T (p.Arg244Ter) rs759363072
NM_004329.3(BMPR1A):c.733T>A (p.Tyr245Asn) rs369012159
NM_004329.3(BMPR1A):c.744A>G (p.Val248=) rs1060504910
NM_004329.3(BMPR1A):c.750G>A (p.Met250Ile) rs1564723388
NM_004329.3(BMPR1A):c.785T>C (p.Val262Ala) rs770830310
NM_004329.3(BMPR1A):c.803_804inv (p.Glu268Val)
NM_004329.3(BMPR1A):c.892G>A (p.Gly298Ser) rs1564724125
NM_004329.3(BMPR1A):c.92A>G (p.His31Arg) rs1589763313
NM_004329.3(BMPR1A):c.941A>G (p.Asn314Ser) rs1564724169
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys) rs587778111

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