ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000266.4(NDP):c.269G>A (p.Arg90His) rs104894867 0.00003
NM_000266.4(NDP):c.109C>T (p.Arg37Ter) rs398123283
NM_000266.4(NDP):c.131_132del (p.Tyr44fs)
NM_000266.4(NDP):c.155T>A (p.Leu52Ter) rs886043097
NM_000266.4(NDP):c.242T>C (p.Phe81Ser) rs2147204801
NM_000266.4(NDP):c.268C>T (p.Arg90Cys) rs1057518793
NM_000266.4(NDP):c.307C>G (p.Leu103Val)
NM_000266.4(NDP):c.355A>C (p.Thr119Pro) rs2147204677
NM_000266.4(NDP):c.361C>T (p.Arg121Trp) rs104894878

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