ClinVar Miner

List of variants studied for Marfan and Marfan-related disorder by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000138.5(FBN1):c.2893G>C (p.Glu965Gln) rs748905831 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val) rs200018073 0.00002
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=) rs112989722 0.00001
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
NM_000138.5(FBN1):c.1760G>A (p.Cys587Tyr) rs1555399963
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.5(FBN1):c.2080G>T (p.Glu694Ter) rs1060501024
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu) rs794728185
NM_000138.5(FBN1):c.2419+1G>A rs1555399257
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2696G>A (p.Gly899Glu) rs1555399094
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.5(FBN1):c.4192G>A (p.Asp1398Asn) rs1597553721
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter) rs111231312
NM_000138.5(FBN1):c.4629del (p.Asp1543fs) rs2043337738
NM_000138.5(FBN1):c.4649del (p.Ser1550fs) rs1597548716
NM_000138.5(FBN1):c.8530C>T (p.Gln2844Ter) rs1555393510
NM_003238.6(TGFB2):c.622delinsGG (p.His208fs) rs1659897581
NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro) rs727504292
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro) rs1554701914
NM_004612.4(TGFBR1):c.734A>C (p.Glu245Ala) rs1554700650
NM_004612.4(TGFBR1):c.847_849del (p.His283del) rs1588590301

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