List of variants studied for Retinitis pigmentosa 38 by Genome-Nilou Lab

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_006343.3(MERTK):c.1552A>G (p.Ile518Val)	rs2230515	0.62489
NM_006343.3(MERTK):c.1397G>A (p.Arg466Lys)	rs7604639	0.62439
NM_006343.3(MERTK):c.757+13T>C	rs3761701	0.58627
NM_006343.3(MERTK):c.1881A>G (p.Ser627=)	rs1131244	0.57808
NM_006343.3(MERTK):c.1296+28T>G	rs57297275	0.23549
NM_006343.3(MERTK):c.1494C>T (p.Asn498=)	rs3811634	0.22888
NM_006343.3(MERTK):c.1451-20G>A	rs3811633	0.22861
NM_006343.3(MERTK):c.583+10C>T	rs11683694	0.22086
NM_006343.3(MERTK):c.353G>A (p.Ser118Asn)	rs13027171	0.20460
NM_006343.3(MERTK):c.2608G>A (p.Val870Ile)	rs2230517	0.08379
NM_006343.3(MERTK):c.2916G>A (p.Ser972=)	rs10205793	0.06012
NM_006343.3(MERTK):c.61+19G>A	rs115821982	0.03962
NM_006343.3(MERTK):c.2080-11C>A	rs3811640

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