ClinVar Miner

List of variants in gene BMPR2 reported as uncertain significance for chronic pulmonary heart disease

Included ClinVar conditions (2):
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) rs374694591 0.00004
NM_001204.7(BMPR2):c.1585C>T (p.Arg529Cys) rs140049204 0.00001
NM_001204.7(BMPR2):c.983C>T (p.Ala328Val) rs759940341 0.00001
NC_000002.11:g.(?_203242198)_(203424669_?)dup
NC_000002.11:g.(?_203383525)_(203407190_?)dup
NC_000002.11:g.(?_203424399)_(203424669_?)del
NC_000002.12:g.(?_202513709)_(202532742_?)dup
NM_001204.7(BMPR2):c.-594A>G rs886055467
NM_001204.7(BMPR2):c.1114G>A (p.Ala372Thr)
NM_001204.7(BMPR2):c.1220A>G (p.Tyr407Cys)
NM_001204.7(BMPR2):c.1276G>A (p.Gly426Arg) rs869025367
NM_001204.7(BMPR2):c.1286_1309del (p.Val429_Gln437delinsGlu) rs1688292101
NM_001204.7(BMPR2):c.1447T>C (p.Cys483Arg) rs1085307354
NM_001204.7(BMPR2):c.1457A>G (p.Gln486Arg) rs2106042085
NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp) rs1060502583
NM_001204.7(BMPR2):c.172_174del (p.Ile58del)
NM_001204.7(BMPR2):c.1763A>G (p.Asn588Ser)
NM_001204.7(BMPR2):c.2431G>A (p.Gly811Ser)
NM_001204.7(BMPR2):c.2441A>G (p.His814Arg)
NM_001204.7(BMPR2):c.247+6T>G rs1085307191
NM_001204.7(BMPR2):c.248G>T (p.Gly83Val)
NM_001204.7(BMPR2):c.253T>C (p.Trp85Arg)
NM_001204.7(BMPR2):c.2986C>A (p.Leu996Met)
NM_001204.7(BMPR2):c.3107_3108insAG (p.Asn1036fs)
NM_001204.7(BMPR2):c.335C>A (p.Thr112Lys) rs2105962314
NM_001204.7(BMPR2):c.340C>T (p.Arg114Cys) rs1553503554
NM_001204.7(BMPR2):c.343T>C (p.Phe115Leu) rs2105962338
NM_001204.7(BMPR2):c.529+4A>G rs893200666
NM_001204.7(BMPR2):c.668A>G (p.Asp223Gly) rs1357877521
NM_001204.7(BMPR2):c.673C>T (p.Arg225Cys) rs1349280349
NM_001204.7(BMPR2):c.77-6T>G
NM_001204.7(BMPR2):c.852+4A>G
NM_001204.7(BMPR2):c.932G>A (p.Gly311Glu) rs1085307274
NM_001204.7(BMPR2):c.968-5A>G rs1060502584

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