ClinVar Miner

Variants in gene NPHP1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr) rs114250691 0.00121
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile) rs140469160 0.00088
NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met) rs147945403 0.00059
NM_001128178.3(NPHP1):c.771+134G>A rs140151060 0.00046
NM_001128178.3(NPHP1):c.43C>A (p.Arg15Ser) rs373915635 0.00029
NM_001128178.3(NPHP1):c.771+2C>T rs189320299 0.00022
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) rs371112962 0.00019
NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met) rs201460699 0.00012
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=) rs200631256 0.00005
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln) rs780427871 0.00004
NM_001128178.3(NPHP1):c.330-4G>A rs774162169 0.00003
NM_001128178.3(NPHP1):c.102A>G (p.Lys34=) rs763004817 0.00001
NM_001128178.3(NPHP1):c.1530-10del rs779032904
NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=) rs144850331
NM_001128178.3(NPHP1):c.415GAAGAG[1] (p.Glu141_Glu142del) rs777574728
NM_001128178.3(NPHP1):c.728+9G>A rs1280756117
NM_001128178.3(NPHP1):c.771+58C>A rs367600757

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