ClinVar Miner

List of variants studied for Nephronophthisis by GeneReviews

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn) rs1141528 0.09226
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter) rs267606916 0.00010
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter) rs200844390 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter) rs376879175 0.00005
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter) rs137852923 0.00003
2q13 deletion (290 kb)
NM_001128178.3(NPHP1):c.80T>A (p.Leu27Ter) rs121907898
NM_014425.5(INVS):c.1417del (p.Ala473fs) rs878855332
NM_014425.5(INVS):c.3125del (p.Asn1042fs) rs878855333
NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter) rs137852922
NM_025114.4(CEP290):c.5707A>T (p.Lys1903Ter) rs878855334
NM_032575.3(GLIS2):c.523T>C (p.Cys175Arg) rs587777353
NM_032575.3(GLIS2):c.775+1G>T rs878855335
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del) rs119456959

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