ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 studied for Adolescent nephronophthisis

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Total variants: 15
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HGVS dbSNP
NM_153240.4(NPHP3):c.1079G>C (p.Ser360Thr) rs119456960
NM_153240.4(NPHP3):c.1381G>T (p.Glu461Ter) rs119456961
NM_153240.4(NPHP3):c.2104C>T (p.Arg702Ter) rs267606916
NM_153240.4(NPHP3):c.2369T>C (p.Leu790Pro) rs398124546
NM_153240.4(NPHP3):c.2694-2_2694-1delAG rs751527253
NM_153240.4(NPHP3):c.3373C>T (p.Arg1125Ter) rs368138001
NM_153240.4(NPHP3):c.3570+2T>A rs1553771772
NM_153240.4(NPHP3):c.3608delC (p.Ala1203Valfs) rs1060499938
NM_153240.4(NPHP3):c.3824_3826delGAG (p.Gly1275del) rs119456959
NM_153240.4(NPHP3):c.424C>T (p.Arg142Ter) rs771742823
NM_153240.4(NPHP3):c.434_437delAAAG (p.Glu145Valfs) rs763300393
NM_153240.4(NPHP3):c.[2108A>C];[3373C>T]
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter)
NM_153240.5(NPHP3):c.1706C>A (p.Ser569Ter)
NM_153240.5(NPHP3):c.2694-2del

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