ClinVar Miner

List of variants reported as likely benign for pulmonary hypertension, primary, 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_001127217.3(SMAD9):c.788G>A (p.Arg263Gln) rs78249575 0.00147
NM_001127217.3(SMAD9):c.487G>A (p.Ala163Thr) rs61753157 0.00145
NM_001127217.3(SMAD9):c.1004-8G>A rs146507864 0.00131
NM_001127217.3(SMAD9):c.828C>T (p.Val276=) rs142675092 0.00063
NM_001127217.3(SMAD9):c.1260+17A>C rs374987262 0.00018
NM_001127217.3(SMAD9):c.449A>G (p.Tyr150Cys) rs138822893 0.00014
NM_001127217.3(SMAD9):c.434C>A (p.Pro145Gln) rs199957237 0.00011
NM_001127217.3(SMAD9):c.1156A>G (p.Asn386Asp) rs142213379 0.00009
NM_001127217.3(SMAD9):c.486C>T (p.Ser162=) rs149757390 0.00006
NM_001127217.3(SMAD9):c.1047C>T (p.Cys349=) rs141357701 0.00004
NM_001127217.3(SMAD9):c.781+18A>G rs900040342 0.00004
NM_001127217.3(SMAD9):c.1004-6C>T rs369967185 0.00003
NM_001127217.3(SMAD9):c.127A>G (p.Lys43Glu) rs397514715 0.00003
NM_001127217.3(SMAD9):c.603G>T (p.Pro201=) rs934648707 0.00003
NM_001127217.3(SMAD9):c.522C>T (p.Asn174=) rs377089593 0.00002
NM_001127217.3(SMAD9):c.1098C>T (p.His366=) rs753371762 0.00001
NM_001127217.3(SMAD9):c.135A>G (p.Leu45=) rs537891440 0.00001
NM_001127217.3(SMAD9):c.685C>T (p.Leu229=) rs547463962 0.00001
NM_001127217.3(SMAD9):c.1008G>A (p.Val336=)
NM_001127217.3(SMAD9):c.1080G>A (p.Arg360=)
NM_001127217.3(SMAD9):c.111A>G (p.Ala37=)
NM_001127217.3(SMAD9):c.1134C>T (p.Ser378=)
NM_001127217.3(SMAD9):c.1140C>T (p.Cys380=)
NM_001127217.3(SMAD9):c.1146C>T (p.Leu382=)
NM_001127217.3(SMAD9):c.1212C>T (p.Val404=)
NM_001127217.3(SMAD9):c.1260+10G>A
NM_001127217.3(SMAD9):c.1261-19C>G
NM_001127217.3(SMAD9):c.1335A>C (p.Pro445=)
NM_001127217.3(SMAD9):c.163C>T (p.Leu55=)
NM_001127217.3(SMAD9):c.177C>G (p.Leu59=)
NM_001127217.3(SMAD9):c.186G>A (p.Pro62=)
NM_001127217.3(SMAD9):c.201A>G (p.Lys67=)
NM_001127217.3(SMAD9):c.207C>T (p.Val69=)
NM_001127217.3(SMAD9):c.228C>T (p.Asp76=)
NM_001127217.3(SMAD9):c.237G>A (p.Leu79=)
NM_001127217.3(SMAD9):c.282C>G (p.Arg94=)
NM_001127217.3(SMAD9):c.297G>A (p.Pro99=)
NM_001127217.3(SMAD9):c.309C>T (p.Ser103=)
NM_001127217.3(SMAD9):c.315C>T (p.His105=)
NM_001127217.3(SMAD9):c.336C>T (p.Cys112=)
NM_001127217.3(SMAD9):c.351T>C (p.Phe117=)
NM_001127217.3(SMAD9):c.412+15C>T
NM_001127217.3(SMAD9):c.412+16G>A
NM_001127217.3(SMAD9):c.412+18C>T
NM_001127217.3(SMAD9):c.412+7C>G
NM_001127217.3(SMAD9):c.413-7A>G
NM_001127217.3(SMAD9):c.429C>T (p.Leu143=)
NM_001127217.3(SMAD9):c.430G>T (p.Val144Leu)
NM_001127217.3(SMAD9):c.437G>A (p.Arg146Lys)
NM_001127217.3(SMAD9):c.450T>C (p.Tyr150=)
NM_001127217.3(SMAD9):c.456C>T (p.Pro152=)
NM_001127217.3(SMAD9):c.462C>T (p.Leu154=)
NM_001127217.3(SMAD9):c.483C>T (p.Arg161=)
NM_001127217.3(SMAD9):c.489C>G (p.Ala163=)
NM_001127217.3(SMAD9):c.507A>T (p.Pro169=)
NM_001127217.3(SMAD9):c.540T>C (p.Ser180=)
NM_001127217.3(SMAD9):c.54G>A (p.Val18=)
NM_001127217.3(SMAD9):c.555G>A (p.Pro185=)
NM_001127217.3(SMAD9):c.567C>G (p.Leu189=) rs2138436681
NM_001127217.3(SMAD9):c.585C>T (p.His195=)
NM_001127217.3(SMAD9):c.588G>T (p.Ala196=)
NM_001127217.3(SMAD9):c.606C>T (p.Cys202=)
NM_001127217.3(SMAD9):c.609G>A (p.Thr203=)
NM_001127217.3(SMAD9):c.622C>G (p.His208Asp)
NM_001127217.3(SMAD9):c.663A>G (p.Gln221=)
NM_001127217.3(SMAD9):c.670+14A>G
NM_001127217.3(SMAD9):c.670+7A>G
NM_001127217.3(SMAD9):c.671-11C>T
NM_001127217.3(SMAD9):c.708C>T (p.Ala236=)
NM_001127217.3(SMAD9):c.768G>A (p.Ser256=)
NM_001127217.3(SMAD9):c.781+17C>T rs2138394060
NM_001127217.3(SMAD9):c.781+9C>T
NM_001127217.3(SMAD9):c.792A>T (p.Pro264=)
NM_001127217.3(SMAD9):c.825G>A (p.Ser275=)
NM_001127217.3(SMAD9):c.850C>A (p.Arg284=)
NM_001127217.3(SMAD9):c.864A>G (p.Thr288=)
NM_001127217.3(SMAD9):c.879C>T (p.Ser293=)
NM_001127217.3(SMAD9):c.885T>C (p.Ser295=)
NM_001127217.3(SMAD9):c.920A>G (p.Asn307Ser)
NM_001127217.3(SMAD9):c.951T>G (p.Ser317=)
NM_001127217.3(SMAD9):c.957A>G (p.Val319=)
NM_001127217.3(SMAD9):c.966C>T (p.Asn322=)

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