ClinVar Miner

List of variants in gene BMPR1A studied for Generalized juvenile polyposis/juvenile polyposis coli

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Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_004329.3(BMPR1A):c.1343-11T>C rs7074064 0.40534
NM_004329.3(BMPR1A):c.*886C>T rs149499991 0.06527
NM_004329.3(BMPR1A):c.*764T>C rs150762162 0.06254
NM_004329.3(BMPR1A):c.435G>A (p.Pro145=) rs11818239 0.04296
NM_004329.3(BMPR1A):c.675+12G>A rs12267107 0.04183
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.-25A>G rs116346662 0.01322
NM_004329.3(BMPR1A):c.*654A>G rs575853350 0.00329
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.*1342G>C rs189436139 0.00167
NM_004329.3(BMPR1A):c.*47T>A rs542274831 0.00130
NM_004329.3(BMPR1A):c.*422C>T rs186843872 0.00129
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_004329.3(BMPR1A):c.*1194A>G rs546825674 0.00065
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_004329.3(BMPR1A):c.*321C>T rs546449017 0.00035
NM_004329.3(BMPR1A):c.*487A>G rs886047362 0.00031
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_004329.3(BMPR1A):c.*85G>A rs531153431 0.00024
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala) rs576247658 0.00014
NM_004329.3(BMPR1A):c.676-6A>C rs186999445 0.00014
NM_004329.3(BMPR1A):c.*1426C>T rs886047365 0.00013
NM_004329.3(BMPR1A):c.*1224A>G rs557287047 0.00011
NM_004329.3(BMPR1A):c.*869T>G rs913973227 0.00011
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=) rs377412651 0.00011
NM_004329.3(BMPR1A):c.530+13T>G rs367550999 0.00010
NM_004329.3(BMPR1A):c.33G>A (p.Leu11=) rs535411352 0.00009
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val) rs200951235 0.00007
NM_004329.3(BMPR1A):c.*67T>G rs560698193 0.00006
NM_004329.3(BMPR1A):c.1520A>G (p.Asn507Ser) rs750840234 0.00006
NM_004329.3(BMPR1A):c.*1349G>T rs886047364 0.00005
NM_004329.3(BMPR1A):c.83G>A (p.Ser28Asn) rs371904636 0.00005
NM_004329.3(BMPR1A):c.1216C>T (p.Arg406Cys) rs587781332 0.00004
NM_004329.3(BMPR1A):c.140G>A (p.Gly47Glu) rs368595543 0.00004
NM_004329.3(BMPR1A):c.1474-9A>G rs372031054 0.00004
NM_004329.3(BMPR1A):c.1498A>G (p.Met500Val) rs376651641 0.00004
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578 0.00004
NM_004329.3(BMPR1A):c.-137A>G rs886047360 0.00003
NM_004329.3(BMPR1A):c.198C>T (p.His66=) rs150493865 0.00003
NM_004329.3(BMPR1A):c.510C>T (p.Phe170=) rs747266339 0.00003
NM_004329.3(BMPR1A):c.530+12T>C rs976070262 0.00003
NM_004329.3(BMPR1A):c.569A>G (p.Asn190Ser) rs574229174 0.00003
NM_004329.3(BMPR1A):c.68-12A>G rs201120747 0.00003
NM_004329.3(BMPR1A):c.1068C>T (p.Pro356=) rs759520915 0.00002
NM_004329.3(BMPR1A):c.455G>A (p.Arg152Gln) rs567009904 0.00002
NM_004329.3(BMPR1A):c.911A>G (p.Gln304Arg) rs730881434 0.00002
NM_004329.3(BMPR1A):c.*335G>T rs1185798745 0.00001
NM_004329.3(BMPR1A):c.*662A>G rs1288197063 0.00001
NM_004329.3(BMPR1A):c.*664C>T rs886047363 0.00001
NM_004329.3(BMPR1A):c.1059A>G (p.Gln353=) rs1060503407 0.00001
NM_004329.3(BMPR1A):c.1081C>T (p.Arg361Ter) rs764466442 0.00001
NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn) rs587781522 0.00001
NM_004329.3(BMPR1A):c.1432C>T (p.Arg478Cys) rs372178531 0.00001
NM_004329.3(BMPR1A):c.1513G>A (p.Ala505Thr) rs369966011 0.00001
NM_004329.3(BMPR1A):c.1549A>G (p.Ile517Val) rs754607465 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.676-3A>C rs587782760 0.00001
NM_004329.3(BMPR1A):c.676-5T>C rs200537780 0.00001
NM_004329.3(BMPR1A):c.676G>T (p.Val226Phe) rs587780110 0.00001
NM_004329.3(BMPR1A):c.713G>A (p.Arg238Gln) rs191742018 0.00001
NM_004329.3(BMPR1A):c.751G>T (p.Gly251Cys) rs750513716 0.00001
NM_004329.3(BMPR1A):c.987A>C (p.Arg329Ser) rs753521037 0.00001
NC_000010.10:g.(?_88598623)_(88649987_?)dup
NC_000010.10:g.(?_88659541)_(88683486_?)dup
NC_000010.10:g.(?_88676885)_(88683482_?)dup
NC_000010.11:g.(86838980_86875866)_(86876086_86890061)del
NC_000010.11:g.(?_86755016)_(86756919_?)dup
NC_000010.11:g.(?_86755016)_(86923719_?)del
NC_000010.11:g.(?_86755016)_(86923719_?)dup
NC_000010.11:g.(?_86755016)_(86923725_?)dup
NC_000010.11:g.(?_86838866)_(86838981_?)del
NC_000010.11:g.(?_86838866)_(86843510_?)del
NC_000010.11:g.(?_86838866)_(86923719_?)dup
NC_000010.11:g.(?_86875868)_(86876095_?)del
NC_000010.11:g.(?_86876009)_(86876095_?)del
NC_000010.11:g.(?_86876009)_(86923729_?)del
NC_000010.11:g.(?_86912230)_(86917336_?)del
NC_000010.11:g.(?_86912230)_(86919479_?)del
NM_004329.2(BMPR1A):c.-152-?_*1469del
NM_004329.2(BMPR1A):c.-152-?_333+?dup
NM_004329.3(BMPR1A):c.*1056A>C rs1013976124
NM_004329.3(BMPR1A):c.*542G>T rs575024211
NM_004329.3(BMPR1A):c.*545G>A rs12773754
NM_004329.3(BMPR1A):c.*641A>C rs1234049470
NM_004329.3(BMPR1A):c.*746A>G rs61856965
NM_004329.3(BMPR1A):c.*893T>C rs200051592
NM_004329.3(BMPR1A):c.*946A>G rs61856966
NM_004329.3(BMPR1A):c.-140A>G rs886047359
NM_004329.3(BMPR1A):c.1009T>G (p.Ser337Ala) rs1589291671
NM_004329.3(BMPR1A):c.1022G>A (p.Gly341Asp) rs1564724250
NM_004329.3(BMPR1A):c.1098A>C (p.Lys366Asn) rs1060503397
NM_004329.3(BMPR1A):c.110_111insCCATGGCACTGGGAT (p.Ser37_Asp38insHisGlyThrGlyIle) rs1589763343
NM_004329.3(BMPR1A):c.1114A>T (p.Lys372Ter) rs1315674155
NM_004329.3(BMPR1A):c.115_116insA (p.Ser39fs) rs587783038
NM_004329.3(BMPR1A):c.1166+14del rs1554891117
NM_004329.3(BMPR1A):c.1167-13T>G rs1057517581
NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter) rs1131691181
NM_004329.3(BMPR1A):c.1231G>A (p.Glu411Lys) rs786202611
NM_004329.3(BMPR1A):c.1324CGT[1] (p.Arg443del) rs864622075
NM_004329.3(BMPR1A):c.1474-7T>C rs1060504901
NM_004329.3(BMPR1A):c.1502C>G (p.Ser501Ter) rs1554891649
NM_004329.3(BMPR1A):c.150del (p.Ala51fs) rs1589763393
NM_004329.3(BMPR1A):c.1533del (p.Arg511fs) rs1843700160
NM_004329.3(BMPR1A):c.170C>G (p.Pro57Arg) rs1057517610
NM_004329.3(BMPR1A):c.176T>A (p.Leu59Ter) rs1564714834
NM_004329.3(BMPR1A):c.191C>T (p.Ser64Leu) rs760515128
NM_004329.3(BMPR1A):c.247_251del (p.Phe83fs) rs786204187
NM_004329.3(BMPR1A):c.334-16A>G rs143279531
NM_004329.3(BMPR1A):c.366_384del (p.Glu123fs) rs1554888970
NM_004329.3(BMPR1A):c.374del (p.Cys125fs) rs1564717692
NM_004329.3(BMPR1A):c.44_47del (p.Leu15fs) rs1554886816
NM_004329.3(BMPR1A):c.499A>T (p.Met167Leu) rs200951235
NM_004329.3(BMPR1A):c.506TCT[1] (p.Phe170del) rs878854669
NM_004329.3(BMPR1A):c.583C>T (p.Gln195Ter) rs771910503
NM_004329.3(BMPR1A):c.676-8C>A rs1554890727
NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter) rs587782682
NM_004329.3(BMPR1A):c.733T>A (p.Tyr245Asn) rs369012159
NM_004329.3(BMPR1A):c.771del (p.Val258fs) rs878854673
NM_004329.3(BMPR1A):c.829A>G (p.Ile277Val) rs1060503400
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys) rs587778111
NM_004329.3(BMPR1A):c.993G>A (p.Leu331=) rs786202827

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