ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as pathogenic for NPHP3-related Meckel-like syndrome

Included ClinVar conditions (2):
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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter) rs267606916 0.00010
NM_153240.5(NPHP3):c.958-2A>G rs780148543 0.00006
NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter) rs182135982 0.00003
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter) rs119456961 0.00002
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter) rs201237799 0.00002
NM_153240.5(NPHP3):c.469del (p.Arg157fs) rs773760404 0.00002
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter) rs1485445500 0.00001
NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter) rs119456962 0.00001
NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter) rs368138001 0.00001
NM_153240.5(NPHP3):c.3619C>T (p.Arg1207Ter) rs780020801 0.00001
NM_153240.5(NPHP3):c.2917C>T (p.Arg973Ter)
NM_153240.5(NPHP3):c.3406C>T (p.Gln1136Ter) rs1576660495
NM_153240.5(NPHP3):c.434_437del (p.Glu145fs) rs763300393
NM_153240.5(NPHP3):c.520-1G>T rs759262253
NM_153240.5(NPHP3):c.748C>T (p.Gln250Ter)

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