ClinVar Miner

List of variants reported as likely pathogenic for Nephronophthisis

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Total variants: 35
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HGVS dbSNP
NC_000003.11:g.(?_121491404)_(121500721_?)dup
NM_000272.4:c.(1520+1_1521-1)_(1697+1_1698-1)del
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs) rs587783011
NM_001023570.4(IQCB1):c.758del (p.Cys253fs)
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001040694.2(INCENP):c.2415G>C (p.Gln805His) rs61893682
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)
NM_001128178.3(NPHP1):c.325_329+7del
NM_001128178.3(NPHP1):c.771+169G>T
NM_014425.5(INVS):c.1078+1G>A rs375416014
NM_014425.5(INVS):c.2786+1G>A
NM_014425.5(INVS):c.2786+2T>C rs1322951938
NM_014425.5(INVS):c.3104del (p.Gln1035fs)
NM_014425.5(INVS):c.615+1G>A rs955421639
NM_015102.5(NPHP4):c.1042_1043dup (p.Met348fs)
NM_015102.5(NPHP4):c.1075C>T (p.Gln359Ter)
NM_015102.5(NPHP4):c.135_135+8del
NM_015102.5(NPHP4):c.2260G>A (p.Gly754Arg) rs373962831
NM_015102.5(NPHP4):c.2327del (p.Pro776fs)
NM_015102.5(NPHP4):c.2611+1G>A rs374141736
NM_015102.5(NPHP4):c.2611+1G>C
NM_015102.5(NPHP4):c.280-1G>C
NM_015102.5(NPHP4):c.3473-1G>T
NM_016166.2(PIAS1):c.317C>T (p.Ser106Leu) rs774456004
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs) rs756302731
NM_032120.4(RBM48):c.835A>G (p.Thr279Ala) rs372607453
NM_032130.3(FAM186B):c.506-2A>G rs549662742
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1628+2T>A
NM_153240.5(NPHP3):c.1928C>T (p.Pro643Leu)
NM_153240.5(NPHP3):c.2311-1G>C
NM_153240.5(NPHP3):c.3820G>T (p.Gly1274Ter)
NM_153240.5(NPHP3):c.988G>A (p.Glu330Lys) rs758498695

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