List of variants studied for Fraser syndrome by OMIM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp)	rs114837786	0.00003
NM_207361.6(FREM2):c.5920G>A (p.Glu1974Lys)	rs121434355	0.00001
NM_001366722.1(GRIP1):c.1337_1340del (p.Lys446fs)	rs397514486
NM_001366722.1(GRIP1):c.2269+1G>C	rs397514485
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
NM_207361.6(FREM2):c.15del (p.Thr6fs)	rs1869502750
NM_207361.6(FREM2):c.7519+1G>A	rs1566169711

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