ClinVar Miner

List of variants reported as not provided for Marfan and Marfan-related disorder

Included ClinVar conditions (33):
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile) rs147134796 0.00007
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly) rs765649978 0.00004
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala) rs371876622 0.00003
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys) rs749133312 0.00001
NM_000138.5(FBN1):c.8418C>G (p.Ile2806Met) rs1480715909 0.00001
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) rs863223838 0.00001
NM_000138.5(FBN1):c.1571del (p.Thr524fs) rs886038817
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp) rs140603
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.3297A>T (p.Glu1099Asp) rs1555398626
NM_000138.5(FBN1):c.5018T>C (p.Ile1673Thr) rs2043300504
NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg) rs1597537835
NM_000138.5(FBN1):c.762del (p.Leu256fs) rs1064793559
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly) rs1555393833
NM_001999.4(FBN2):c.2773G>A (p.Gly925Arg) rs111405756
NM_001999.4(FBN2):c.4244G>T (p.Gly1415Val) rs2126889179
NM_001999.4(FBN2):c.4346-2A>T rs587776518
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_003238.6(TGFB2):c.59G>A (p.Ser20Asn) rs1656695125
NM_003239.5(TGFB3):c.335A>G (p.Gln112Arg) rs2035412849
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612

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