ClinVar Miner

List of variants reported as pathogenic for Fraser syndrome 1 by Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter) rs377046630 0.00004
NM_025074.7(FRAS1):c.11298+1G>A rs371268544 0.00003
NM_025074.7(FRAS1):c.3730C>T (p.Arg1244Ter) rs186964660 0.00002
NM_025074.7(FRAS1):c.1153C>T (p.Arg385Ter) rs775259788 0.00001
NM_025074.7(FRAS1):c.2010T>A (p.Cys670Ter) rs1338479649 0.00001
NM_025074.7(FRAS1):c.2722+1G>A rs794727365 0.00001
NM_025074.7(FRAS1):c.4111C>T (p.Gln1371Ter) rs1732862637 0.00001
NM_025074.7(FRAS1):c.5134C>T (p.Arg1712Ter) rs535527511 0.00001
NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser) rs771251344 0.00001
NM_025074.7(FRAS1):c.619C>T (p.Arg207Ter) rs748696533 0.00001
NM_025074.7(FRAS1):c.9316+2T>A rs1358085095 0.00001
NC_000004.12:g.78268671_78298757del
NM_025074.7(FRAS1):c.10541-1G>A rs1721385740
NM_025074.7(FRAS1):c.10999C>T (p.Gln3667Ter) rs1721821279
NM_025074.7(FRAS1):c.11158C>T (p.Gln3720Ter) rs1219344385
NM_025074.7(FRAS1):c.1121G>A (p.Trp374Ter) rs1727394990
NM_025074.7(FRAS1):c.11473C>T (p.Gln3825Ter) rs765622092
NM_025074.7(FRAS1):c.1399+1G>A rs1727490024
NM_025074.7(FRAS1):c.285C>A (p.Cys95Ter) rs1725182255
NM_025074.7(FRAS1):c.4032dup (p.Met1345fs) rs1732856311
NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter) rs1733155852
NM_025074.7(FRAS1):c.5169_5175del (p.Ala1724fs) rs1734259370
NM_025074.7(FRAS1):c.5574dup (p.Ala1859fs) rs753831692
NM_025074.7(FRAS1):c.570_573dup (p.Ala192fs) rs1725743022
NM_025074.7(FRAS1):c.5716del (p.Ile1906fs) rs1718790934
NM_025074.7(FRAS1):c.5952dup (p.Asp1985fs) rs1718847595
NM_025074.7(FRAS1):c.688-5T>G rs775548230
NM_025074.7(FRAS1):c.8098+1G>T rs376088537
NM_025074.7(FRAS1):c.9466G>T (p.Glu3156Ter) rs1227013948
NM_025074.7(FRAS1):c.9627C>A (p.Tyr3209Ter) rs377369857

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