List of variants reported for Meckel syndrome, type 4 by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)	rs386834153	0.00013
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)	rs386834152	0.00005
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)	rs386834148
NM_025114.4(CEP290):c.1451del (p.Lys484fs)	rs386834149
NM_025114.4(CEP290):c.180+2T>A	rs386834150
NM_025114.4(CEP290):c.1860_1861del (p.Asp622fs)	rs386834151
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer)	rs62640570
NM_025114.4(CEP290):c.3446_3447del (p.Lys1149fs)	rs386834155
NM_025114.4(CEP290):c.381_382delinsT (p.Lys127fs)	rs386834156
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)	rs386834157
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)	rs386834158
NM_025114.4(CEP290):c.5850del (p.Phe1950fs)	rs386834159

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