List of variants reported as pathogenic for Norrie disease

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_012193.4(FZD4):c.313A>G (p.Met105Val)	rs80358284	0.00004
NM_000266.4(NDP):c.103del (p.Asp35fs)	rs2147209204
NM_000266.4(NDP):c.109C>T (p.Arg37Ter)	rs398123283
NM_000266.4(NDP):c.131A>G (p.Tyr44Cys)	rs104894870
NM_000266.4(NDP):c.134T>A (p.Val45Glu)	rs137852221
NM_000266.4(NDP):c.179T>A (p.Val60Glu)	rs104894869
NM_000266.4(NDP):c.181C>T (p.Leu61Phe)	rs104894880
NM_000266.4(NDP):c.1A>G (p.Met1Val)	rs28933685
NM_000266.4(NDP):c.206G>C (p.Cys69Ser)	rs104894872
NM_000266.4(NDP):c.218C>A (p.Ser73Ter)	rs104894882
NM_000266.4(NDP):c.220C>T (p.Arg74Cys)	rs727504031
NM_000266.4(NDP):c.223_224dup (p.Glu76fs)
NM_000266.4(NDP):c.224C>G (p.Ser75Cys)	rs104894868
NM_000266.4(NDP):c.269G>C (p.Arg90Pro)	rs104894867
NM_000266.4(NDP):c.287G>A (p.Cys96Tyr)	rs104894871
NM_000266.4(NDP):c.288C>G (p.Cys96Trp)	rs104894877
NM_000266.4(NDP):c.302C>T (p.Ser101Phe)	rs104894883
NM_000266.4(NDP):c.313G>A (p.Ala105Thr)	rs104894875
NM_000266.4(NDP):c.384C>A (p.Cys128Ter)	rs104894873
NM_000266.4(NDP):c.38T>G (p.Leu13Arg)	rs104894879
NM_000266.4(NDP):c.58G>T (p.Gly20Ter)	rs200594881
NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe)	rs878853243

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