ClinVar Miner

List of variants in gene NPHP4 reported as pathogenic

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Total variants: 28
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HGVS dbSNP
GRCh37/hg19 1p36.31(chr1:5979667-6007969)x1
NM_015102.5(NPHP4):c.1228C>T (p.Gln410Ter)
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter)
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter) rs370210428
NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter) rs1210874691
NM_015102.5(NPHP4):c.1585_1586del (p.Gly529fs)
NM_015102.5(NPHP4):c.1705C>T (p.Gln569Ter)
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs) rs1368105372
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs) rs1553200990
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter) rs137852923
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter) rs1025515771
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser) rs547495754
NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter) rs137852920
NM_015102.5(NPHP4):c.2304+1G>A
NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter) rs137852922
NM_015102.5(NPHP4):c.2368G>T (p.Glu790Ter) rs137852918
NM_015102.5(NPHP4):c.2377C>T (p.Gln793Ter) rs137852919
NM_015102.5(NPHP4):c.2611+1G>A rs374141736
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met) rs569364202
NM_015102.5(NPHP4):c.2940_2944dup (p.His982fs) rs398124289
NM_015102.5(NPHP4):c.2972T>C (p.Phe991Ser) rs28940891
NM_015102.5(NPHP4):c.3272del (p.Val1091fs) rs1278089386
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter) rs758275952
NM_015102.5(NPHP4):c.3409_3412del (p.Tyr1137fs) rs762371581
NM_015102.5(NPHP4):c.3618del (p.Asp1208fs) rs1557588167
NM_015102.5(NPHP4):c.517C>T (p.Gln173Ter)
NM_015102.5(NPHP4):c.750dup (p.Ser251fs) rs754862360
NM_015102.5(NPHP4):c.834_841del (p.Ala279fs)

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