ClinVar Miner

List of variants in gene LOC126806306, NPHP1 studied for autosomal recessive disease

Included ClinVar conditions (1198):
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001128178.3(NPHP1):c.1103C>T (p.Thr368Ile) rs778528184 0.00001
GRCh38/hg38 2q13(chr2:110123182-110205164)x0
NC_000002.12:g.(?_110123771)_(110204988_?)del
NC_000002.12:g.(?_110123791)_(110204968_?)del
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
NM_001128178.3(NPHP1):c.1084-16dup
NM_001128178.3(NPHP1):c.1084-1G>T rs1458494785
NM_001128178.3(NPHP1):c.1084-2A>C
NM_001128178.3(NPHP1):c.1091G>A (p.Ser364Asn) rs1681364664
NM_001128178.3(NPHP1):c.1097T>C (p.Ile366Thr)
NM_001128178.3(NPHP1):c.1099C>T (p.His367Tyr)
NM_001128178.3(NPHP1):c.1130A>C (p.Lys377Thr) rs1441711189
NM_001128178.3(NPHP1):c.1130del (p.Lys377fs) rs772720024
NM_001128178.3(NPHP1):c.1140A>T (p.Thr380=)
NM_001128178.3(NPHP1):c.1146C>A (p.Thr382=)
NM_001128178.3(NPHP1):c.1154C>T (p.Pro385Leu)
NM_001128178.3(NPHP1):c.1155C>T (p.Pro385=)
NM_001128178.3(NPHP1):c.1157del (p.Gln386fs)
NM_001128178.3(NPHP1):c.1158+15G>A
NM_001128178.3(NPHP1):c.1158+15G>T
NM_001128178.3(NPHP1):c.1158+1G>A
Single allele

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