List of variants studied for Fraser syndrome 1 by OMIM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_025074.7(FRAS1):c.3799C>T (p.Gln1267Ter)	rs120074158
NM_025074.7(FRAS1):c.4271C>G (p.Ser1424Ter)	rs120074159
NM_025074.7(FRAS1):c.5419_5424del (p.Phe1807_Ser1808del)	rs730882178
NM_025074.7(FRAS1):c.5574dup (p.Ala1859fs)	rs753831692
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs)	rs730882179
NM_025074.7(FRAS1):c.7522+1G>T	rs730882180
NM_025074.7(FRAS1):c.8602C>T (p.Gln2868Ter)	rs120074156
NM_025074.7(FRAS1):c.9013C>T (p.Gln3005Ter)	rs120074157

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