ClinVar Miner

List of variants reported as likely benign for primary pulmonary hypertension by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.2656C>T (p.Arg886Cys) rs148770894 0.00041
NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln) rs148099152 0.00031
NM_001204.7(BMPR2):c.2453C>T (p.Ser818Phe) rs201938348 0.00030
NM_001204.7(BMPR2):c.1766A>G (p.Tyr589Cys) rs199915496 0.00024
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp) rs137852754 0.00016
NM_001204.7(BMPR2):c.2887G>T (p.Gly963Cys) rs146027217 0.00014
NM_001204.7(BMPR2):c.726C>T (p.Asn242=) rs151044452 0.00014
NM_001204.7(BMPR2):c.981T>C (p.Pro327=) rs149225691 0.00010
NM_001204.7(BMPR2):c.2645G>A (p.Gly882Asp) rs777302843 0.00008
NM_001204.7(BMPR2):c.2618G>A (p.Arg873Gln) rs201781338 0.00007
NM_001204.7(BMPR2):c.1284C>T (p.Ser428=) rs772817229 0.00006
NM_001204.7(BMPR2):c.220A>G (p.Lys74Glu) rs757855256 0.00006
NM_001204.7(BMPR2):c.150A>G (p.Arg50=) rs201759998 0.00005
NM_001204.7(BMPR2):c.1822C>G (p.Leu608Val) rs768979615 0.00005
NM_001204.7(BMPR2):c.2186G>C (p.Gly729Ala) rs201816099 0.00005
NM_001204.7(BMPR2):c.2526G>T (p.Arg842Ser) rs368819325 0.00005
NM_001204.7(BMPR2):c.1516A>G (p.Met506Val) rs370457339 0.00004
NM_001204.7(BMPR2):c.1698T>A (p.Ile566=) rs948158717 0.00004
NM_001204.7(BMPR2):c.2960C>T (p.Ser987Phe) rs150642992 0.00004
NM_001204.7(BMPR2):c.2961C>T (p.Ser987=) rs144848138 0.00004
NM_001204.7(BMPR2):c.1104G>A (p.Glu368=) rs1043562957 0.00003
NM_001204.7(BMPR2):c.230T>C (p.Ile77Thr) rs144389360 0.00003
NM_001204.7(BMPR2):c.2352C>T (p.Val784=) rs767560978 0.00003
NM_001204.7(BMPR2):c.2353G>A (p.Glu785Lys) rs773135384 0.00003
NM_001204.7(BMPR2):c.660C>A (p.Gly220=) rs750524280 0.00003
NM_001204.7(BMPR2):c.1032T>C (p.Asp344=) rs752247850 0.00002
NM_001204.7(BMPR2):c.1278G>A (p.Gly426=) rs901714492 0.00002
NM_001204.7(BMPR2):c.1512T>G (p.Leu504=) rs777417397 0.00002
NM_001204.7(BMPR2):c.492G>A (p.Leu164=) rs1295114817 0.00002
NM_001204.7(BMPR2):c.513A>T (p.Gly171=) rs776029242 0.00002
NM_001204.7(BMPR2):c.1293G>A (p.Glu431=) rs766357487 0.00001
NM_001204.7(BMPR2):c.1317G>A (p.Glu439=) rs150555588 0.00001
NM_001204.7(BMPR2):c.1356C>T (p.Leu452=) rs1254220092 0.00001
NM_001204.7(BMPR2):c.1413+10A>T rs1388869180 0.00001
NM_001204.7(BMPR2):c.1481C>T (p.Ala494Val) rs2229778 0.00001
NM_001204.7(BMPR2):c.1500G>A (p.Arg500=) rs1466230481 0.00001
NM_001204.7(BMPR2):c.1734T>C (p.Thr578=) rs1466340783 0.00001
NM_001204.7(BMPR2):c.1746A>G (p.Lys582=) rs764468287 0.00001
NM_001204.7(BMPR2):c.1863G>A (p.Thr621=) rs753528525 0.00001
NM_001204.7(BMPR2):c.1899A>G (p.Pro633=) rs1574506690 0.00001
NM_001204.7(BMPR2):c.2296A>G (p.Thr766Ala) rs758990535 0.00001
NM_001204.7(BMPR2):c.2493A>G (p.Leu831=) rs1420813407 0.00001
NM_001204.7(BMPR2):c.2721C>T (p.Ser907=) rs756764327 0.00001
NM_001204.7(BMPR2):c.45A>G (p.Pro15=) rs1289095937 0.00001
NM_001204.7(BMPR2):c.792T>C (p.Asp264=) rs146814773 0.00001
NM_001204.7(BMPR2):c.1023G>C (p.Val341=)
NM_001204.7(BMPR2):c.1037C>A (p.Thr346Asn) rs757926043
NM_001204.7(BMPR2):c.1083T>C (p.Asn361=)
NM_001204.7(BMPR2):c.1094G>A (p.Arg365His)
NM_001204.7(BMPR2):c.1096C>G (p.Pro366Ala)
NM_001204.7(BMPR2):c.1128+12C>T
NM_001204.7(BMPR2):c.1129-10A>T rs1361655105
NM_001204.7(BMPR2):c.1129-16C>A
NM_001204.7(BMPR2):c.1129-19del
NM_001204.7(BMPR2):c.116C>T (p.Pro39Leu)
NM_001204.7(BMPR2):c.1276+10A>G rs1688052228
NM_001204.7(BMPR2):c.1276+14T>G
NM_001204.7(BMPR2):c.1276+16A>C
NM_001204.7(BMPR2):c.1277-4A>G
NM_001204.7(BMPR2):c.1284C>G (p.Ser428=) rs772817229
NM_001204.7(BMPR2):c.1344T>C (p.Asp448=)
NM_001204.7(BMPR2):c.1351G>T (p.Val451Phe)
NM_001204.7(BMPR2):c.1352T>C (p.Val451Ala)
NM_001204.7(BMPR2):c.1362T>C (p.Ser454=) rs2106030936
NM_001204.7(BMPR2):c.1377A>G (p.Arg459=)
NM_001204.7(BMPR2):c.1395C>T (p.Ala465=)
NM_001204.7(BMPR2):c.147T>C (p.Ser49=) rs150080314
NM_001204.7(BMPR2):c.1497A>G (p.Glu499=) rs2106042166
NM_001204.7(BMPR2):c.150A>T (p.Arg50Ser)
NM_001204.7(BMPR2):c.1514T>C (p.Met505Thr)
NM_001204.7(BMPR2):c.1542G>A (p.Val514=)
NM_001204.7(BMPR2):c.1587-7_1587-4del rs769408722
NM_001204.7(BMPR2):c.1686C>T (p.Ile562=) rs779465454
NM_001204.7(BMPR2):c.1719C>T (p.Ser573=)
NM_001204.7(BMPR2):c.1735A>G (p.Ile579Val)
NM_001204.7(BMPR2):c.1742A>G (p.Glu581Gly)
NM_001204.7(BMPR2):c.1743A>G (p.Glu581=)
NM_001204.7(BMPR2):c.1751G>T (p.Arg584Leu)
NM_001204.7(BMPR2):c.175T>C (p.Leu59=)
NM_001204.7(BMPR2):c.180C>T (p.Cys60=) rs2105959771
NM_001204.7(BMPR2):c.182C>T (p.Ser61Leu)
NM_001204.7(BMPR2):c.1837A>G (p.Thr613Ala)
NM_001204.7(BMPR2):c.1842C>G (p.Thr614=)
NM_001204.7(BMPR2):c.1862C>T (p.Thr621Met)
NM_001204.7(BMPR2):c.1866A>G (p.Pro622=) rs2105711480
NM_001204.7(BMPR2):c.1868G>A (p.Ser623Asn)
NM_001204.7(BMPR2):c.1914A>G (p.Thr638=) rs1553512773
NM_001204.7(BMPR2):c.1945A>G (p.Ile649Val)
NM_001204.7(BMPR2):c.1972C>T (p.Leu658=) rs2105711595
NM_001204.7(BMPR2):c.2002C>G (p.Leu668Val)
NM_001204.7(BMPR2):c.2007C>T (p.Asp669=) rs2105711651
NM_001204.7(BMPR2):c.2094A>C (p.Pro698=)
NM_001204.7(BMPR2):c.2094A>T (p.Pro698=)
NM_001204.7(BMPR2):c.2097G>C (p.Leu699=) rs2105711741
NM_001204.7(BMPR2):c.2103T>C (p.Ser701=)
NM_001204.7(BMPR2):c.2124C>T (p.Tyr708=)
NM_001204.7(BMPR2):c.2142A>G (p.Ala714=)
NM_001204.7(BMPR2):c.2233C>T (p.Leu745Phe)
NM_001204.7(BMPR2):c.2264C>T (p.Pro755Leu)
NM_001204.7(BMPR2):c.2307C>G (p.Pro769=)
NM_001204.7(BMPR2):c.2310G>A (p.Arg770=)
NM_001204.7(BMPR2):c.2358T>C (p.Thr786=)
NM_001204.7(BMPR2):c.2432G>A (p.Gly811Asp)
NM_001204.7(BMPR2):c.2442C>T (p.His814=) rs1040061555
NM_001204.7(BMPR2):c.247+8A>G
NM_001204.7(BMPR2):c.247+8A>T rs745717516
NM_001204.7(BMPR2):c.248-20G>C
NM_001204.7(BMPR2):c.2487A>G (p.Thr829=)
NM_001204.7(BMPR2):c.2513T>C (p.Ile838Thr)
NM_001204.7(BMPR2):c.2565C>T (p.Asp855=) rs1221129629
NM_001204.7(BMPR2):c.2570G>A (p.Arg857Gln)
NM_001204.7(BMPR2):c.2634C>T (p.Gly878=)
NM_001204.7(BMPR2):c.2659C>T (p.Leu887Phe)
NM_001204.7(BMPR2):c.2683C>A (p.Leu895Ile)
NM_001204.7(BMPR2):c.2690G>A (p.Gly897Asp)
NM_001204.7(BMPR2):c.2695C>G (p.Arg899Gly)
NM_001204.7(BMPR2):c.2731T>G (p.Ser911Ala)
NM_001204.7(BMPR2):c.2745T>G (p.Val915=)
NM_001204.7(BMPR2):c.2820T>C (p.Ser940=)
NM_001204.7(BMPR2):c.2832A>G (p.Ser944=)
NM_001204.7(BMPR2):c.2866+14del
NM_001204.7(BMPR2):c.2866+7G>A
NM_001204.7(BMPR2):c.2867-16G>A
NM_001204.7(BMPR2):c.2886T>C (p.Asp962=) rs1574509405
NM_001204.7(BMPR2):c.2889C>G (p.Gly963=)
NM_001204.7(BMPR2):c.2898A>G (p.Gly966=)
NM_001204.7(BMPR2):c.2913C>T (p.Ile971=) rs1688648151
NM_001204.7(BMPR2):c.2955C>T (p.Arg985=)
NM_001204.7(BMPR2):c.2958C>G (p.Pro986=)
NM_001204.7(BMPR2):c.2970C>T (p.Val990=)
NM_001204.7(BMPR2):c.2979T>C (p.Thr993=)
NM_001204.7(BMPR2):c.2985G>A (p.Ser995=)
NM_001204.7(BMPR2):c.29G>A (p.Arg10Gln)
NM_001204.7(BMPR2):c.3012C>T (p.Gly1004=) rs750107486
NM_001204.7(BMPR2):c.3025G>A (p.Val1009Ile)
NM_001204.7(BMPR2):c.3039C>T (p.Ser1013=) rs2105716256
NM_001204.7(BMPR2):c.3058G>A (p.Ala1020Thr)
NM_001204.7(BMPR2):c.3076A>G (p.Thr1026Ala)
NM_001204.7(BMPR2):c.3090T>C (p.Ser1030=)
NM_001204.7(BMPR2):c.3108C>T (p.Asn1036=)
NM_001204.7(BMPR2):c.327G>A (p.Gln109=)
NM_001204.7(BMPR2):c.33G>A (p.Val11=) rs906306607
NM_001204.7(BMPR2):c.418+13A>C
NM_001204.7(BMPR2):c.418+19T>A
NM_001204.7(BMPR2):c.419-14T>C
NM_001204.7(BMPR2):c.438C>T (p.Asn146=)
NM_001204.7(BMPR2):c.457A>G (p.Ile153Val)
NM_001204.7(BMPR2):c.465G>A (p.Leu155=)
NM_001204.7(BMPR2):c.489T>C (p.Val163=)
NM_001204.7(BMPR2):c.490T>C (p.Leu164=)
NM_001204.7(BMPR2):c.529+10dup
NM_001204.7(BMPR2):c.530-13C>A
NM_001204.7(BMPR2):c.615G>C (p.Leu205=) rs1052155506
NM_001204.7(BMPR2):c.615G>T (p.Leu205=)
NM_001204.7(BMPR2):c.622-4G>T
NM_001204.7(BMPR2):c.632G>A (p.Arg211Gln)
NM_001204.7(BMPR2):c.641A>T (p.Tyr214Phe)
NM_001204.7(BMPR2):c.663C>T (p.Ser221=)
NM_001204.7(BMPR2):c.667G>C (p.Asp223His)
NM_001204.7(BMPR2):c.672G>A (p.Glu224=)
NM_001204.7(BMPR2):c.710G>A (p.Arg237His)
NM_001204.7(BMPR2):c.753G>A (p.Leu251=) rs1195908712
NM_001204.7(BMPR2):c.76+17G>A
NM_001204.7(BMPR2):c.76+8G>C
NM_001204.7(BMPR2):c.771T>C (p.Ile257=) rs2106007050
NM_001204.7(BMPR2):c.785T>C (p.Val262Ala)
NM_001204.7(BMPR2):c.804T>C (p.Thr268=)
NM_001204.7(BMPR2):c.80C>T (p.Ser27Leu)
NM_001204.7(BMPR2):c.815G>A (p.Arg272His)
NM_001204.7(BMPR2):c.853-6A>G
NM_001204.7(BMPR2):c.853-6A>T rs372279211
NM_001204.7(BMPR2):c.858T>C (p.Ser286=) rs1574489009
NM_001204.7(BMPR2):c.914C>T (p.Ala305Val)
NM_001204.7(BMPR2):c.954A>G (p.Glu318=) rs1037042104
NM_001204.7(BMPR2):c.967+13A>G
NM_001204.7(BMPR2):c.969T>C (p.Asp323=)
NM_001204.7(BMPR2):c.99A>T (p.Leu33=)

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