ClinVar Miner

List of variants studied for pulmonary hypertension, primary, 2 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 75
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HGVS dbSNP gnomAD frequency
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.1161C>A (p.Asn387Lys) rs562953157 0.00011
NM_001127217.3(SMAD9):c.781+2T>A rs770716081 0.00010
NM_001127217.3(SMAD9):c.1156A>G (p.Asn386Asp) rs142213379 0.00009
NM_001127217.3(SMAD9):c.482G>A (p.Arg161His) rs200651392 0.00005
NM_001127217.3(SMAD9):c.1047C>T (p.Cys349=) rs141357701 0.00004
NM_001127217.3(SMAD9):c.971C>T (p.Thr324Met) rs752874017 0.00003
NM_001127217.3(SMAD9):c.907G>A (p.Asp303Asn) rs369783485 0.00002
NM_001127217.3(SMAD9):c.1045T>G (p.Cys349Gly) rs1284819257 0.00001
NM_001127217.3(SMAD9):c.1243C>T (p.Arg415Trp) rs863223772 0.00001
NM_001127217.3(SMAD9):c.679C>A (p.Pro227Thr) rs1429353457 0.00001
NM_001127217.3(SMAD9):c.880C>T (p.Arg294Ter) rs397514716 0.00001
NM_001127217.3(SMAD9):c.1001A>G (p.Lys334Arg)
NM_001127217.3(SMAD9):c.1004-2A>G
NM_001127217.3(SMAD9):c.1035_1036del (p.Tyr346fs)
NM_001127217.3(SMAD9):c.1128C>G (p.Ile376Met)
NM_001127217.3(SMAD9):c.1150G>A (p.Val384Ile)
NM_001127217.3(SMAD9):c.1171G>A (p.Ala391Thr)
NM_001127217.3(SMAD9):c.1243C>A (p.Arg415=)
NM_001127217.3(SMAD9):c.1270G>A (p.Ala424Thr)
NM_001127217.3(SMAD9):c.1283G>A (p.Arg428His)
NM_001127217.3(SMAD9):c.1321C>T (p.His441Tyr)
NM_001127217.3(SMAD9):c.1344G>A (p.Trp448Ter)
NM_001127217.3(SMAD9):c.137dup (p.Lys47fs)
NM_001127217.3(SMAD9):c.1383C>A (p.Asn461Lys)
NM_001127217.3(SMAD9):c.172G>T (p.Ala58Ser)
NM_001127217.3(SMAD9):c.17C>T (p.Pro6Leu)
NM_001127217.3(SMAD9):c.185C>T (p.Pro62Leu)
NM_001127217.3(SMAD9):c.205G>A (p.Val69Ile)
NM_001127217.3(SMAD9):c.214C>A (p.Pro72Thr)
NM_001127217.3(SMAD9):c.218G>A (p.Arg73His) rs1453268397
NM_001127217.3(SMAD9):c.228C>A (p.Asp76Glu)
NM_001127217.3(SMAD9):c.251G>T (p.Arg84Leu)
NM_001127217.3(SMAD9):c.270_276dup (p.Cys93fs)
NM_001127217.3(SMAD9):c.283G>T (p.Val95Leu)
NM_001127217.3(SMAD9):c.308C>G (p.Ser103Cys)
NM_001127217.3(SMAD9):c.315C>A (p.His105Gln)
NM_001127217.3(SMAD9):c.318_322dup (p.Lys108delinsSerTer)
NM_001127217.3(SMAD9):c.386dup (p.Tyr129Ter) rs2138492919
NM_001127217.3(SMAD9):c.419C>T (p.Pro140Leu)
NM_001127217.3(SMAD9):c.43A>G (p.Ser15Gly)
NM_001127217.3(SMAD9):c.442A>G (p.Ser148Gly)
NM_001127217.3(SMAD9):c.458A>C (p.Gln153Pro)
NM_001127217.3(SMAD9):c.499A>G (p.Ser167Gly)
NM_001127217.3(SMAD9):c.554C>T (p.Pro185Leu)
NM_001127217.3(SMAD9):c.564_567dup (p.Pro190fs) rs765156859
NM_001127217.3(SMAD9):c.602C>T (p.Pro201Leu)
NM_001127217.3(SMAD9):c.606C>T (p.Cys202=)
NM_001127217.3(SMAD9):c.609G>A (p.Thr203=)
NM_001127217.3(SMAD9):c.635G>A (p.Ser212Asn)
NM_001127217.3(SMAD9):c.671-1G>A
NM_001127217.3(SMAD9):c.719A>G (p.Gln240Arg)
NM_001127217.3(SMAD9):c.725G>T (p.Gly242Val)
NM_001127217.3(SMAD9):c.775A>C (p.Asn259His)
NM_001127217.3(SMAD9):c.802G>A (p.Glu268Lys)
NM_001127217.3(SMAD9):c.824C>T (p.Ser275Leu)
NM_001127217.3(SMAD9):c.830C>T (p.Ala277Val)
NM_001127217.3(SMAD9):c.851G>T (p.Arg284Leu)
NM_001127217.3(SMAD9):c.854T>C (p.Val285Ala)
NM_001127217.3(SMAD9):c.862A>T (p.Thr288Ser)
NM_001127217.3(SMAD9):c.868C>T (p.Gln290Ter)
NM_001127217.3(SMAD9):c.87_89del (p.Glu31del)
NM_001127217.3(SMAD9):c.881G>A (p.Arg294Gln)
NM_001127217.3(SMAD9):c.885T>G (p.Ser295Arg)
NM_001127217.3(SMAD9):c.892A>G (p.Ile298Val)
NM_001127217.3(SMAD9):c.919A>G (p.Asn307Asp)
NM_001127217.3(SMAD9):c.922A>G (p.Arg308Gly)
NM_001127217.3(SMAD9):c.950C>G (p.Ser317Cys) rs781563938
NM_001127217.3(SMAD9):c.953A>G (p.Asn318Ser)
NM_001127217.3(SMAD9):c.965A>G (p.Asn322Ser)
NM_001127217.3(SMAD9):c.982A>G (p.Thr328Ala)
NM_001127217.3(SMAD9):c.997G>A (p.Gly333Arg)

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