ClinVar Miner

List of variants reported as pathogenic for Fraser syndrome 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 7
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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.3010+1G>A rs574631014 0.00002
NM_025074.7(FRAS1):c.1153C>T (p.Arg385Ter) rs775259788 0.00001
NM_025074.7(FRAS1):c.364del (p.Glu122fs) rs1560604726
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs) rs730882179
NM_025074.7(FRAS1):c.7254dup (p.Glu2419fs) rs2109847651
NM_025074.7(FRAS1):c.7522+1G>T rs730882180

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