ClinVar Miner

List of variants in gene BMPR1A reported by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 55
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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.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.*85G>A rs531153431 0.00024
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.*67T>G rs560698193 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.1498A>G (p.Met500Val) rs376651641 0.00004
NM_004329.3(BMPR1A):c.-137A>G rs886047360 0.00003
NM_004329.3(BMPR1A):c.1068C>T (p.Pro356=) rs759520915 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.1549A>G (p.Ile517Val) rs754607465 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.751G>T (p.Gly251Cys) rs750513716 0.00001
NM_004329.3(BMPR1A):c.987A>C (p.Arg329Ser) rs753521037 0.00001
NM_004329.3(BMPR1A):c.*1056A>C rs1013976124
NM_004329.3(BMPR1A):c.*45_*47del rs530912809
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.1098A>C (p.Lys366Asn) rs1060503397
NM_004329.3(BMPR1A):c.1474-7T>C rs1060504901
NM_004329.3(BMPR1A):c.191C>T (p.Ser64Leu) rs760515128
NM_004329.3(BMPR1A):c.374del (p.Cys125fs) rs1564717692

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