ClinVar Miner

List of variants studied for Marfan syndrome by Mendelics

Included ClinVar conditions (15):
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777 0.00029
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile) rs140537304 0.00028
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr) rs148665451 0.00006
NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn) rs758366498 0.00001
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn) rs370121450 0.00001
NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr) rs1597583989
NM_000138.5(FBN1):c.1679G>T (p.Gly560Val) rs1555400052
NM_000138.5(FBN1):c.1759T>C (p.Cys587Arg) rs1555399968
NM_000138.5(FBN1):c.189T>G (p.Tyr63Ter) rs1597633183
NM_000138.5(FBN1):c.1960+1G>C rs1555399804
NM_000138.5(FBN1):c.2130dup (p.Cys711fs) rs1597571391
NM_000138.5(FBN1):c.3217G>T (p.Glu1073Ter) rs137854478
NM_000138.5(FBN1):c.3375dup (p.Gly1126fs) rs1597563287
NM_000138.5(FBN1):c.3545G>A (p.Cys1182Tyr) rs1597562812
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser) rs140638
NM_000138.5(FBN1):c.4048T>C (p.Cys1350Arg) rs397515799
NM_000138.5(FBN1):c.4048T>G (p.Cys1350Gly) rs397515799
NM_000138.5(FBN1):c.4687T>A (p.Cys1563Ser) rs1597548672
NM_000138.5(FBN1):c.496T>C (p.Cys166Arg) rs363852
NM_000138.5(FBN1):c.4988G>C (p.Cys1663Ser) rs1555396853
NM_000138.5(FBN1):c.5083T>G (p.Cys1695Gly) rs1597545345
NM_000138.5(FBN1):c.5125G>T (p.Glu1709Ter) rs1597545257
NM_000138.5(FBN1):c.5244_5247dup (p.Ser1750fs) rs1597543486
NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr) rs1555396429
NM_000138.5(FBN1):c.5431G>T (p.Glu1811Ter) rs761857514
NM_000138.5(FBN1):c.5675_5676del (p.Ile1892fs) rs1597533713
NM_000138.5(FBN1):c.6079G>T (p.Gly2027Cys) rs1566897404
NM_000138.5(FBN1):c.6149del (p.Gly2050fs) rs1597529686
NM_000138.5(FBN1):c.6508T>C (p.Cys2170Arg) rs1597523873
NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg) rs1555395001
NM_000138.5(FBN1):c.719G>A (p.Arg240His) rs768744583
NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr) rs794728160
NM_000138.5(FBN1):c.7820-1G>C rs1597509836
NM_000138.5(FBN1):c.7830A>T (p.Glu2610Asp) rs1597509823
NM_000138.5(FBN1):c.8596dup (p.Ile2866fs) rs1597506547
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421

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