ClinVar Miner

List of variants in gene NDP reported as pathogenic for Norrie disease

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
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

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