ClinVar Miner

List of variants in gene BMPR2 studied for Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1

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Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.600A>C (p.Leu200=) rs55722784 0.01458
NM_001204.7(BMPR2):c.-301G>A rs116154690 0.00917
NM_001204.7(BMPR2):c.*815C>T rs184240459 0.00103
NM_001204.7(BMPR2):c.*2833G>A rs77006932 0.00096
NM_001204.7(BMPR2):c.*2854T>G rs752981394 0.00075
NM_001204.7(BMPR2):c.*5252A>G rs528034202 0.00056
NM_001204.7(BMPR2):c.-407G>T rs886055468 0.00045
NM_001204.7(BMPR2):c.63C>T (p.Val21=) rs149973695 0.00040
NM_001204.7(BMPR2):c.*5624A>G rs570949250 0.00032
NM_001204.7(BMPR2):c.-434G>A rs766982703 0.00032
NM_001204.7(BMPR2):c.776G>A (p.Arg259His) rs200960921 0.00027
NM_001204.7(BMPR2):c.549T>C (p.Leu183=) rs142769493 0.00023
NM_001204.7(BMPR2):c.*7080G>A rs886055494 0.00021
NM_001204.7(BMPR2):c.*6731G>A rs184637642 0.00015
NM_001204.7(BMPR2):c.726C>T (p.Asn242=) rs151044452 0.00014
NM_001204.7(BMPR2):c.*7273G>A rs774176078 0.00013
NM_001204.7(BMPR2):c.57G>A (p.Leu19=) rs759723251 0.00009
NM_001204.7(BMPR2):c.80C>T (p.Ser27Leu) rs573463511 0.00007
NM_001204.7(BMPR2):c.*3354G>T rs886055481 0.00006
NM_001204.7(BMPR2):c.2362G>A (p.Val788Ile) rs146310981 0.00006
NM_001204.7(BMPR2):c.150A>G (p.Arg50=) rs201759998 0.00005
NM_001204.7(BMPR2):c.1516A>G (p.Met506Val) rs370457339 0.00005
NM_001204.7(BMPR2):c.1677T>A (p.Thr559=) rs748684688 0.00005
NM_001204.7(BMPR2):c.2228A>G (p.Tyr743Cys) rs148257675 0.00005
NM_001204.7(BMPR2):c.2526G>T (p.Arg842Ser) rs368819325 0.00005
NM_001204.7(BMPR2):c.*2491T>C rs773528113 0.00004
NM_001204.7(BMPR2):c.2960C>T (p.Ser987Phe) rs150642992 0.00004
NM_001204.7(BMPR2):c.775C>T (p.Arg259Cys) rs760996563 0.00004
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) rs374694591 0.00004
NM_001204.7(BMPR2):c.908G>A (p.Arg303His) rs200948870 0.00004
NM_001204.7(BMPR2):c.1687G>A (p.Val563Met) rs557172581 0.00003
NM_001204.7(BMPR2):c.1878G>C (p.Met626Ile) rs200428510 0.00003
NM_001204.7(BMPR2):c.2353G>A (p.Glu785Lys) rs773135384 0.00003
NM_001204.7(BMPR2):c.67A>G (p.Thr23Ala) rs141716313 0.00003
NM_001204.7(BMPR2):c.1586G>A (p.Arg529His) rs752615120 0.00002
NM_001204.7(BMPR2):c.2708A>G (p.Asn903Ser) rs373725296 0.00002
NM_001204.7(BMPR2):c.530-13C>A rs1224397184 0.00002
NM_001204.7(BMPR2):c.803C>G (p.Thr268Ser) rs530455380 0.00002
NM_001204.7(BMPR2):c.818T>G (p.Met273Arg) rs1085307264 0.00002
NM_001204.7(BMPR2):c.136A>G (p.Ile46Val) rs759804753 0.00001
NM_001204.7(BMPR2):c.1742A>G (p.Glu581Gly) rs763249213 0.00001
NM_001204.7(BMPR2):c.1837A>G (p.Thr613Ala) rs141038240 0.00001
NM_001204.7(BMPR2):c.1863G>A (p.Thr621=) rs753528525 0.00001
NM_001204.7(BMPR2):c.2441A>G (p.His814Arg) rs369568686 0.00001
NM_001204.7(BMPR2):c.276A>C (p.Gln92His) rs140683387 0.00001
NM_001204.7(BMPR2):c.2978C>T (p.Thr993Ile) rs1423951489 0.00001
NM_001204.7(BMPR2):c.914C>T (p.Ala305Val) rs199954814 0.00001
NM_001204.7(BMPR2):c.983C>T (p.Ala328Val) rs759940341 0.00001
NM_001204.7(BMPR2):c.*5535G>A rs546195086
NM_001204.7(BMPR2):c.1024A>C (p.Lys342Gln)
NM_001204.7(BMPR2):c.1037C>A (p.Thr346Asn) rs757926043
NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr) rs137852744
NM_001204.7(BMPR2):c.1087C>G (p.Leu363Val) rs781018234
NM_001204.7(BMPR2):c.1089G>T (p.Leu363=)
NM_001204.7(BMPR2):c.1128+4A>C
NM_001204.7(BMPR2):c.1169del (p.Gly390fs) rs2468703779
NM_001204.7(BMPR2):c.1215C>T (p.Asp405=)
NM_001204.7(BMPR2):c.1216A>G (p.Met406Val)
NM_001204.7(BMPR2):c.1219T>G (p.Tyr407Asp)
NM_001204.7(BMPR2):c.1241G>A (p.Trp414Ter) rs1085307317
NM_001204.7(BMPR2):c.1285G>A (p.Val429Ile)
NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter) rs1060502576
NM_001204.7(BMPR2):c.1438A>T (p.Ile480Phe)
NM_001204.7(BMPR2):c.1459G>C (p.Asp487His)
NM_001204.7(BMPR2):c.1467G>A (p.Glu489=)
NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp) rs137852746
NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp) rs1060502583
NM_001204.7(BMPR2):c.1550C>T (p.Thr517Ile)
NM_001204.7(BMPR2):c.1559C>T (p.Pro520Leu)
NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer) rs1085307169
NM_001204.7(BMPR2):c.1595C>G (p.Ser532Ter)
NM_001204.7(BMPR2):c.1600A>G (p.Asn534Asp)
NM_001204.7(BMPR2):c.1618A>G (p.Ile540Val)
NM_001204.7(BMPR2):c.1655T>C (p.Ile552Thr)
NM_001204.7(BMPR2):c.1657G>A (p.Glu553Lys)
NM_001204.7(BMPR2):c.1667T>G (p.Ile556Ser)
NM_001204.7(BMPR2):c.1684A>G (p.Ile562Val)
NM_001204.7(BMPR2):c.1703C>T (p.Ser568Phe)
NM_001204.7(BMPR2):c.1714A>C (p.Met572Leu) rs183518211
NM_001204.7(BMPR2):c.172A>G (p.Ile58Val)
NM_001204.7(BMPR2):c.1749C>A (p.Asn583Lys)
NM_001204.7(BMPR2):c.1751G>T (p.Arg584Leu) rs139591065
NM_001204.7(BMPR2):c.1761T>G (p.Ile587Met)
NM_001204.7(BMPR2):c.1807A>G (p.Thr603Ala)
NM_001204.7(BMPR2):c.1814T>A (p.Val605Asp)
NM_001204.7(BMPR2):c.1816A>T (p.Thr606Ser)
NM_001204.7(BMPR2):c.182C>T (p.Ser61Leu) rs1166280962
NM_001204.7(BMPR2):c.1862C>T (p.Thr621Met) rs147943794
NM_001204.7(BMPR2):c.1915A>G (p.Asn639Asp)
NM_001204.7(BMPR2):c.194C>T (p.Thr65Ile)
NM_001204.7(BMPR2):c.1977AGA[2] (p.Glu661del)
NM_001204.7(BMPR2):c.2033A>G (p.Lys678Arg)
NM_001204.7(BMPR2):c.2046T>A (p.Asp682Glu)
NM_001204.7(BMPR2):c.2066C>G (p.Ser689Cys)
NM_001204.7(BMPR2):c.2111C>G (p.Ser704Cys)
NM_001204.7(BMPR2):c.2164G>A (p.Asp722Asn)
NM_001204.7(BMPR2):c.2199G>C (p.Leu733Phe)
NM_001204.7(BMPR2):c.2266A>G (p.Thr756Ala)
NM_001204.7(BMPR2):c.2308C>T (p.Arg770Trp)
NM_001204.7(BMPR2):c.2319T>G (p.Phe773Leu)
NM_001204.7(BMPR2):c.2390C>T (p.Ala797Val)
NM_001204.7(BMPR2):c.2418G>A (p.Met806Ile)
NM_001204.7(BMPR2):c.2455C>T (p.His819Tyr)
NM_001204.7(BMPR2):c.2569C>T (p.Arg857Trp)
NM_001204.7(BMPR2):c.2579T>C (p.Ile860Thr)
NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) rs137852748
NM_001204.7(BMPR2):c.2621A>G (p.Glu874Gly)
NM_001204.7(BMPR2):c.2659C>T (p.Leu887Phe) rs776284920
NM_001204.7(BMPR2):c.2663T>C (p.Val888Ala)
NM_001204.7(BMPR2):c.2678G>A (p.Arg893Gln) rs751749720
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) rs137852741
NM_001204.7(BMPR2):c.2765G>C (p.Ser922Thr)
NM_001204.7(BMPR2):c.2854A>G (p.Ser952Gly)
NM_001204.7(BMPR2):c.2867-3C>G
NM_001204.7(BMPR2):c.2922T>G (p.Arg974=)
NM_001204.7(BMPR2):c.2978C>G (p.Thr993Ser)
NM_001204.7(BMPR2):c.2998G>A (p.Val1000Ile)
NM_001204.7(BMPR2):c.3022G>A (p.Ala1008Thr)
NM_001204.7(BMPR2):c.3077C>T (p.Thr1026Ile)
NM_001204.7(BMPR2):c.3082A>G (p.Met1028Val)
NM_001204.7(BMPR2):c.309_310insG (p.Thr104fs)
NM_001204.7(BMPR2):c.341G>A (p.Arg114His)
NM_001204.7(BMPR2):c.38G>C (p.Trp13Ser)
NM_001204.7(BMPR2):c.39G>C (p.Trp13Cys)
NM_001204.7(BMPR2):c.419G>T (p.Ser140Ile)
NM_001204.7(BMPR2):c.424C>T (p.Pro142Ser)
NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter) rs869025366
NM_001204.7(BMPR2):c.521T>G (p.Met174Arg)
NM_001204.7(BMPR2):c.529+1G>A rs1553508187
NM_001204.7(BMPR2):c.529+4A>G rs893200666
NM_001204.7(BMPR2):c.529G>A (p.Gly177Arg) rs1574486033
NM_001204.7(BMPR2):c.55C>T (p.Leu19=)
NM_001204.7(BMPR2):c.5C>G (p.Thr2Ser)
NM_001204.7(BMPR2):c.622-8A>T
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter) rs886041324
NM_001204.7(BMPR2):c.673C>T (p.Arg225Cys) rs1349280349
NM_001204.7(BMPR2):c.691G>C (p.Val231Leu)
NM_001204.7(BMPR2):c.878_879del (p.Leu293fs)
NM_001204.7(BMPR2):c.878_880delinsCT (p.Leu293fs)
NM_001204.7(BMPR2):c.887G>A (p.Ser296Asn)
NM_001204.7(BMPR2):c.900C>G (p.Ser300Arg)
NM_001204.7(BMPR2):c.907C>T (p.Arg303Cys)
NM_001204.7(BMPR2):c.926C>T (p.Thr309Ile)
NM_001204.7(BMPR2):c.947A>G (p.His316Arg) rs2106008443
NM_001204.7(BMPR2):c.95G>A (p.Arg32Gln)
NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter) rs1060502581
NM_001204.7(BMPR2):c.971A>G (p.His324Arg)

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