ClinVar Miner

List of variants in gene NDP reported as pathogenic by OMIM

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000266.4(NDP):c.125A>G (p.His42Arg) rs104894874 0.00001
NM_000266.4(NDP):c.103del (p.Asp35fs) rs2147209204
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.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.328T>G (p.Cys110Gly) rs104894876
NM_000266.4(NDP):c.361C>T (p.Arg121Trp) rs104894878
NM_000266.4(NDP):c.362G>T (p.Arg121Leu) rs137852220
NM_000266.4(NDP):c.370C>T (p.Leu124Phe) rs28933684
NM_000266.4(NDP):c.384C>A (p.Cys128Ter) rs104894873
NM_000266.4(NDP):c.38T>G (p.Leu13Arg) rs104894879

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