ClinVar Miner

List of variants in gene NPHP1 reported as benign for Nephronophthisis

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val) rs113450177 0.01140
NM_001128178.3(NPHP1):c.1529+19C>T rs112090979 0.01096
NM_001128178.3(NPHP1):c.772-17G>A rs146343637 0.00862
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_001128178.3(NPHP1):c.133A>C (p.Ile45Leu) rs145479679 0.00211
NM_001128178.3(NPHP1):c.1270-4C>T rs151204566 0.00181
NM_001128178.3(NPHP1):c.1269+9G>A rs13414551 0.00089
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met) rs200201945 0.00033
NM_001128178.3(NPHP1):c.1270-18A>G rs534210307 0.00011
NM_001128178.3(NPHP1):c.294C>T (p.Gly98=) rs747950591 0.00001
NM_001128178.3(NPHP1):c.438T>C (p.Asn146=) rs548684868 0.00001
NM_001128178.3(NPHP1):c.859+5T>C rs374379957 0.00001
NC_000002.11:g.(?_110879913)_(110963639_?)dup
NC_000002.11:g.(?_110881368)_(110937261_?)dup
NM_000272.3(NPHP1):c.(?_-1)_(*1_?)dup
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_001128178.3(NPHP1):c.144-11del
NM_001128178.3(NPHP1):c.144-11dup rs762119782
NM_001128178.3(NPHP1):c.1530-13dup
NM_001128178.3(NPHP1):c.729-11dup

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