ClinVar Miner

List of variants in gene NPHP1 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
2q13 deletion (290 kb)
GRCh37/hg19 2q13(chr2:110875689-110967529)
NC_000002.11:g.(?_110881348)_(110962565_?)del
NC_000002.11:g.(?_110881368)_(110962545_?)del
NC_000002.11:g.(?_110920625)_(110962545_?)del
NM_000272.3(NPHP1):c.(?_-1)_(*1_?)del
NM_000272.3(NPHP1):c.-94_*455del
NM_000272.4(NPHP1):c.1027G>A (p.Gly343Arg) rs121907899
NM_000272.4(NPHP1):c.1039C>T (p.Arg347Ter) rs765263671
NM_000272.4(NPHP1):c.1520+1del rs747861275
NM_000272.4(NPHP1):c.1529_1530del (p.Glu510fs) rs1553484094
NM_000272.4(NPHP1):c.1884+1G>T rs1233478832
NM_000272.4(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_000272.4(NPHP1):c.80T>A (p.Leu27Ter) rs121907898
NM_001128178.3(NPHP1):c.555del (p.Lys185fs)
NPHP1, DEL

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