ClinVar Miner

List of variants in gene NPHP1 reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00013
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter) rs547352656 0.00002
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter) rs765263671 0.00002
NM_001128178.3(NPHP1):c.1270-1G>A rs376492641 0.00001
NM_001128178.3(NPHP1):c.1352+1del rs747861275 0.00001
NM_001128178.3(NPHP1):c.1390G>T (p.Glu464Ter) rs764740388 0.00001
NM_001128178.3(NPHP1):c.1716+1G>T rs1233478832 0.00001
NM_001128178.3(NPHP1):c.1857G>A (p.Trp619Ter) rs1473345628 0.00001
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter) rs1311042980 0.00001
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter) rs1349732291 0.00001
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter) rs753517219 0.00001
2q13 deletion (290 kb)
GRCh37/hg19 2q13(chr2:110875689-110967529)
GRCh37/hg19 2q13(chr2:110880893-110962659)
GRCh37/hg19 2q13(chr2:110880925-110962590)
NC_000002.11:g.(?_110879913)_(110963639_?)del
NC_000002.11:g.(?_110881368)_(110959091_?)del
NC_000002.12:g.(?_110123791)_(110201494_?)del
NC_000002.12:g.(?_110144493)_(110150256_?)del
NC_000002.12:g.(?_110163048)_(110204968_?)del
NC_000002.12:g.110131796_110131797insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGGCAGTAGACTATT
NM_000272.3(NPHP1):c.(?_-1)_(*1_?)del
NM_000272.5:c.(?_-1)_(*1_?)del
NM_001128178.3(NPHP1):c.1016dup (p.Leu340fs) rs398123285
NM_001128178.3(NPHP1):c.1039del (p.Val347fs)
NM_001128178.3(NPHP1):c.1064_1080del (p.Leu354_Cys355insTer)
NM_001128178.3(NPHP1):c.1230del (p.Gly411fs)
NM_001128178.3(NPHP1):c.1246_1252del (p.Leu416fs)
NM_001128178.3(NPHP1):c.1270-2A>G
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)
NM_001128178.3(NPHP1):c.1361_1362del (p.Glu454fs) rs1553484094
NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs) rs2104483923
NM_001128178.3(NPHP1):c.1412del (p.Pro471fs) rs1680874514
NM_001128178.3(NPHP1):c.1479dup (p.Leu494fs)
NM_001128178.3(NPHP1):c.1493_1494del (p.Leu498fs) rs2104480049
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs) rs1017750255
NM_001128178.3(NPHP1):c.161del (p.Gln54fs)
NM_001128178.3(NPHP1):c.1628_1635del (p.Ser543fs)
NM_001128178.3(NPHP1):c.16C>T (p.Gln6Ter)
NM_001128178.3(NPHP1):c.1725G>A (p.Trp575Ter) rs1679301117
NM_001128178.3(NPHP1):c.172G>T (p.Glu58Ter)
NM_001128178.3(NPHP1):c.1777del (p.Phe592_Leu593insTer)
NM_001128178.3(NPHP1):c.1847dup (p.Phe617fs)
NM_001128178.3(NPHP1):c.1886_1893del (p.Trp629fs)
NM_001128178.3(NPHP1):c.1977del (p.Phe659fs) rs1679148969
NM_001128178.3(NPHP1):c.19C>T (p.Arg7Ter)
NM_001128178.3(NPHP1):c.265_266del (p.Leu89fs)
NM_001128178.3(NPHP1):c.343del (p.Thr115fs)
NM_001128178.3(NPHP1):c.480dup (p.Gly161fs)
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001128178.3(NPHP1):c.555del (p.Lys185fs) rs766524637
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001128178.3(NPHP1):c.625-1G>A
NM_001128178.3(NPHP1):c.625-2A>G
NM_001128178.3(NPHP1):c.64C>T (p.Gln22Ter)
NM_001128178.3(NPHP1):c.69+1del
NM_001128178.3(NPHP1):c.735del (p.His247fs)
NM_001128178.3(NPHP1):c.739del (p.His247fs)
NM_001128178.3(NPHP1):c.771+124C>T
NM_001128178.3(NPHP1):c.771+130A>T
NM_001128178.3(NPHP1):c.771+58C>T
NM_001128178.3(NPHP1):c.771+77_771+78del rs1682584195
NM_001128178.3(NPHP1):c.77dup (p.Ser26fs)
NM_001128178.3(NPHP1):c.80T>A (p.Leu27Ter) rs121907898
NM_001128178.3(NPHP1):c.812_813insA (p.Pro272fs) rs2104553788
NM_001128178.3(NPHP1):c.843dup (p.Gln282fs)
NM_001128178.3(NPHP1):c.844C>T (p.Gln282Ter) rs1328879943
NM_001128178.3(NPHP1):c.84_87del (p.Ser29fs)
NM_001128178.3(NPHP1):c.882C>A (p.Tyr294Ter)
NM_001128178.3(NPHP1):c.937del (p.Asp313fs) rs2104548314
NM_001128178.3(NPHP1):c.995T>G (p.Leu332Ter)
NM_001128178.3(NPHP1):c.998G>A (p.Trp333Ter)

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