List of variants studied for Fraser syndrome 2 by Genome-Nilou Lab

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_207361.6(FREM2):c.576G>A (p.Glu192=)	rs1868464	0.99992
NM_207361.6(FREM2):c.5410+25T>C	rs2442370	0.94938
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile)	rs9548509	0.73365
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser)	rs2496425	0.43515
NM_207361.6(FREM2):c.7398A>G (p.Thr2466=)	rs9532292	0.39041

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