ClinVar Miner

List of variants reported as pathogenic for Infantile nephronophthisis

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter) rs200844390 0.00009
NM_014425.5(INVS):c.1453del (p.Gln485fs) rs753348470 0.00006
NM_024753.5(TTC21B):c.2758-2A>G rs766132877 0.00003
NM_014425.5(INVS):c.1078+1G>A rs375416014 0.00001
NM_014425.5(INVS):c.1186C>T (p.Arg396Ter) rs773049314 0.00001
NM_014425.5(INVS):c.1484G>A (p.Trp495Ter) rs149055711 0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter) rs755288504 0.00001
NM_014425.5(INVS):c.1807C>T (p.Arg603Ter) rs121964994 0.00001
GRCh37/hg19 9q31.1(chr9:103059178-103060312)
NM_014425.5(INVS):c.1478T>C (p.Leu493Ser) rs121964995
NM_014425.5(INVS):c.2719C>T (p.Arg907Ter) rs267607185
NM_014425.5(INVS):c.2887C>T (p.Gln963Ter) rs1425211517
NM_014425.5(INVS):c.2972C>G (p.Ser991Ter) rs1329661241
NM_014425.5(INVS):c.325C>T (p.Gln109Ter)
NM_014425.5(INVS):c.753T>G (p.Tyr251Ter) rs2118494165
NM_014425.5(INVS):c.805_806del (p.Gln269fs)
NM_014425.5(INVS):c.[796+5G>A;805_806del]

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