List of variants reported as uncertain significance for retinal disorder by Centogene AG - the Rare Disease Company

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)	rs28938473	0.00362
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)	rs1800548	0.00090
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)	rs121909207	0.00014
NM_025099.6(CTC1):c.1682G>A (p.Arg561His)	rs373690929	0.00004
NM_000350.3(ABCA4):c.5305C>A (p.Leu1769Met)	rs1274228304	0.00001
NM_000180.4(GUCY2D):c.131TGC[1] (p.Leu45del)	rs2151799258
NM_001844.5(COL2A1):c.2719C>T (p.Pro907Ser)	rs1398589070
NM_178857.6(RP1L1):c.6469_6470delinsAA (p.Ala2157Asn)	rs2117190218

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