ClinVar Miner

List of variants reported as likely pathogenic for aneurysm-osteoarthritis syndrome

Included ClinVar conditions (1):
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.1094A>T (p.Gln365Leu) rs1595962708
NM_005902.4(SMAD3):c.1243G>C (p.Gly415Arg) rs886038961
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn) rs1555414503
NM_005902.4(SMAD3):c.1A>T (p.Met1Leu) rs1555405092
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln) rs863223765
NM_005902.4(SMAD3):c.304G>T (p.Glu102Ter) rs1962537574
NM_005902.4(SMAD3):c.334_335delinsCT (p.Ala112Leu) rs1595941823
NM_005902.4(SMAD3):c.364G>A (p.Val122Met) rs587782977
NM_005902.4(SMAD3):c.3G>A (p.Met1Ile) rs2140188685
NM_005902.4(SMAD3):c.435_436del (p.Glu145fs)
NM_005902.4(SMAD3):c.445_455del (p.Glu149fs) rs2140294805
NM_005902.4(SMAD3):c.677A>C (p.Tyr226Ser)
NM_005902.4(SMAD3):c.67C>T (p.Gln23Ter)
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) rs387906853
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) rs387906855
NM_005902.4(SMAD3):c.789del (p.Ser264fs) rs1963050712
NM_005902.4(SMAD3):c.808_812delinsAGA (p.Cys270fs) rs2140314299
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005902.4(SMAD3):c.916G>T (p.Glu306Ter)
NM_005902.4(SMAD3):c.991G>T (p.Val331Phe) rs1320208623

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