ClinVar Miner

List of variants in gene BMPR1A reported as likely benign by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser) rs142454490 0.00011
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met) rs55932635 0.00009
NM_004329.3(BMPR1A):c.33G>A (p.Leu11=) rs535411352 0.00009
NM_004329.3(BMPR1A):c.478A>G (p.Met160Val) rs145101532 0.00007
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val) rs200951235 0.00007
NM_004329.3(BMPR1A):c.1401C>T (p.Tyr467=) rs149787558 0.00004
NM_004329.3(BMPR1A):c.1474-10T>C rs369633360 0.00004
NM_004329.3(BMPR1A):c.1068C>T (p.Pro356=) rs759520915 0.00002
NM_004329.3(BMPR1A):c.230+7A>G rs186530845 0.00002
NM_004329.3(BMPR1A):c.27A>G (p.Arg9=) rs751420248 0.00002
NM_004329.3(BMPR1A):c.765C>T (p.Gly255=) rs786201114 0.00002
NM_004329.3(BMPR1A):c.1206G>A (p.Val402=) rs1843665394 0.00001
NM_004329.3(BMPR1A):c.1362A>G (p.Gln454=) rs764090248 0.00001
NM_004329.3(BMPR1A):c.372T>C (p.Cys124=) rs755028781 0.00001
NM_004329.3(BMPR1A):c.682C>A (p.Arg228=) rs587782682 0.00001
NM_004329.3(BMPR1A):c.774G>A (p.Val258=) rs540411494 0.00001
NM_004329.3(BMPR1A):c.975A>G (p.Thr325=) rs974541270 0.00001
NM_004329.3(BMPR1A):c.1230C>G (p.Pro410=) rs200642188
NM_004329.3(BMPR1A):c.1539A>T (p.Thr513=) rs780244868
NM_004329.3(BMPR1A):c.231-9C>T rs763313220
NM_004329.3(BMPR1A):c.676-6A>G rs186999445
NM_004329.3(BMPR1A):c.744A>G (p.Val248=) rs1060504910

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