ClinVar Miner

List of variants reported as uncertain significance for Nephronophthisis by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_015102.4(NPHP4):c.-235G>A rs765435500 0.00058
NM_153240.4(NPHP3):c.-70C>T rs886058006 0.00056
NM_015102.4(NPHP4):c.-236C>T rs185912310 0.00022
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys) rs144731534 0.00014
NM_014425.5(INVS):c.2335C>T (p.Arg779Trp) rs370643191 0.00008
NM_153240.5(NPHP3):c.*231A>T rs753577987 0.00007
NM_015272.5(RPGRIP1L):c.*901A>G rs750903762 0.00006
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val) rs202142404 0.00006
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu) rs886052093 0.00003
NM_014425.5(INVS):c.1317C>T (p.Cys439=) rs886063266 0.00001
NM_015102.4(NPHP4):c.-225G>A rs886046469 0.00001
NM_015102.4(NPHP4):c.-237G>C rs867788720 0.00001
NM_032575.3(GLIS2):c.*1583del rs886052000 0.00001
NM_001128178.3(NPHP1):c.*333AAC[1] rs555468187
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup) rs777677768
NM_001142301.1(TMEM67):c.-207del rs145334032
NM_014425.5(INVS):c.*466CA[18] rs10527613
NM_014425.5(INVS):c.*466CA[19] rs10527613
NM_014425.5(INVS):c.*466CA[21] rs10527613
NM_014425.5(INVS):c.*466CA[23] rs10527613
NM_014425.5(INVS):c.*466_*467insTCAC rs200314659
NM_014425.5(INVS):c.*466_*467insTCACAC rs200314659
NM_014425.5(INVS):c.1899CAG[1] (p.Ser634del) rs886063267
NM_014425.5(INVS):c.907-13dup rs750082874
NM_015272.5(RPGRIP1L):c.3617-13dup rs750499169
NM_032575.3(GLIS2):c.*291TCC[1] rs377612419
NM_032575.3(GLIS2):c.*887G>C rs886051997
NM_153240.5(NPHP3):c.*121_*123del rs371974858
NM_153240.5(NPHP3):c.*650_*651del rs886058000
NM_153240.5(NPHP3):c.*652_*653del rs886057999
NM_153240.5(NPHP3):c.*652del rs369921629
NM_153240.5(NPHP3):c.*654dup rs886057998
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.3126-12dup rs398124547
NM_153240.5(NPHP3):c.913A>G (p.Ile305Val) rs886058004
NM_153704.6(TMEM67):c.119CTTTCC[3] (p.Pro42_Phe43dup) rs886063171

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