ClinVar Miner

List of variants reported as benign for chronic pulmonary heart disease by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.*806C>T rs6435156 0.32263
NM_001204.7(BMPR2):c.2811G>A (p.Arg937=) rs1061157 0.08705
NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn) rs2228545 0.02286
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.-669G>A rs115604088 0.00624
NM_001204.7(BMPR2):c.2748T>C (p.Leu916=) rs16839188 0.00400
NM_001204.7(BMPR2):c.86A>G (p.Asn29Ser) rs112862820 0.00241
NM_001204.7(BMPR2):c.63C>T (p.Val21=) rs149973695 0.00040
NM_001204.7(BMPR2):c.1716G>A (p.Met572Ile) rs771002296 0.00038
NM_001204.7(BMPR2):c.2140G>T (p.Ala714Ser) rs149067277 0.00031
NM_001204.7(BMPR2):c.674G>A (p.Arg225His) rs148682262 0.00026
NM_001204.7(BMPR2):c.1042G>A (p.Val348Ile) rs201067849 0.00020
NM_001204.7(BMPR2):c.621+8T>C rs117575598 0.00020
NM_001204.7(BMPR2):c.147T>G (p.Ser49Arg) rs150080314 0.00013
NM_001204.7(BMPR2):c.57G>A (p.Leu19=) rs759723251 0.00010
NM_001204.7(BMPR2):c.2379A>C (p.Thr793=) rs3731697 0.00009
NM_001204.7(BMPR2):c.1414-3C>T rs199623676 0.00006
NM_001204.7(BMPR2):c.81G>A (p.Ser27=) rs147207234 0.00004
NM_001204.7(BMPR2):c.1875C>T (p.Gly625=) rs561974813 0.00002
NM_001204.7(BMPR2):c.1927A>G (p.Thr643Ala) rs780150866 0.00002
NM_001204.7(BMPR2):c.9C>A (p.Ser3=) rs549281044 0.00002
NM_001204.7(BMPR2):c.165T>C (p.Asn55=) rs200976092 0.00001
NM_001204.7(BMPR2):c.276A>C (p.Gln92His) rs140683387 0.00001
NM_001204.7(BMPR2):c.1037C>G (p.Thr346Ser)
NM_001204.7(BMPR2):c.1087C>G (p.Leu363Val) rs781018234
NM_001204.7(BMPR2):c.1093C>T (p.Arg365Cys)
NM_001204.7(BMPR2):c.1414-14A>G
NM_001204.7(BMPR2):c.1587-12del
NM_001204.7(BMPR2):c.1724C>T (p.Thr575Ile)
NM_001204.7(BMPR2):c.1882A>G (p.Thr628Ala)
NM_001204.7(BMPR2):c.1937C>T (p.Ala646Val)
NM_001204.7(BMPR2):c.2362G>A (p.Val788Ile)
NM_001204.7(BMPR2):c.2444G>A (p.Ser815Asn)
NM_001204.7(BMPR2):c.2506A>G (p.Thr836Ala)
NM_001204.7(BMPR2):c.2678G>A (p.Arg893Gln)
NM_001204.7(BMPR2):c.2696G>A (p.Arg899Gln)
NM_001204.7(BMPR2):c.272C>T (p.Pro91Leu)
NM_001204.7(BMPR2):c.419-38del rs10714063
NM_001204.7(BMPR2):c.440G>A (p.Arg147Gln)
NM_001204.7(BMPR2):c.530-14T>C
NM_001204.7(BMPR2):c.67A>G (p.Thr23Ala)
NM_001204.7(BMPR2):c.68C>T (p.Thr23Ile)
NM_001204.7(BMPR2):c.776G>A (p.Arg259His)
NM_001204.7(BMPR2):c.853-12dup

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