ClinVar Miner

List of variants reported as pathogenic for nephronophthisis 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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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.1352+1del rs747861275 0.00001
NM_001128178.3(NPHP1):c.1716+1G>T rs1233478832 0.00001
GRCh37/hg19 2q13(chr2:110862477-110983703)
GRCh37/hg19 2q13(chr2:110880893-110962659)
GRCh37/hg19 2q13(chr2:110880925-110962590)
GRCh38/hg38 2q13(chr2:110091573-110205023)
GRCh38/hg38 2q13(chr2:110091573-110212811)
GRCh38/hg38 2q13(chr2:110123182-110205164)x0
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
NM_000272.5:c.(?_-1)_(*1_?)del
NM_001128178.3(NPHP1):c.1084-1G>T rs1458494785
NM_001128178.3(NPHP1):c.1255_1258del (p.Ser419fs)
NM_001128178.3(NPHP1):c.1361_1362del (p.Glu454fs) rs1553484094
NM_001128178.3(NPHP1):c.480dup (p.Gly161fs)
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001128178.3(NPHP1):c.625-1G>A
NM_001128178.3(NPHP1):c.80T>A (p.Leu27Ter) rs121907898
NM_001128178.3(NPHP1):c.84_87del (p.Ser29fs)
Single allele

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