ClinVar Miner

List of variants reported as likely pathogenic for Nephronophthisis 15

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904 0.00111
NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter) rs140611214 0.00016
NM_014956.5(CEP164):c.1669dup (p.Glu557fs) rs749114363 0.00004
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter) rs562932233 0.00004
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter) rs149195472 0.00004
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter) rs764893412 0.00002
NM_014956.5(CEP164):c.901C>T (p.Arg301Ter) rs780849567 0.00002
NM_014956.5(CEP164):c.10C>T (p.Arg4Ter) rs765277720 0.00001
NM_014956.5(CEP164):c.1724+1G>A rs1489883516 0.00001
NM_014956.5(CEP164):c.2066+1G>A rs1279037770 0.00001
NM_014956.5(CEP164):c.2493+1G>A rs778819060 0.00001
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter) rs774951398 0.00001
NM_014956.5(CEP164):c.2760+1G>T rs1269878493 0.00001
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp) rs387907310 0.00001
GRCh37/hg19 11q23.3(chr11:117278620-117284002)
NC_000011.9:g.(?_117253375)_(117257939_?)del
NM_014956.5(CEP164):c.1069dup (p.Glu357fs)
NM_014956.5(CEP164):c.1179_1180delinsCT (p.Lys393_Glu394delinsAsnTer)
NM_014956.5(CEP164):c.1233+1G>A
NM_014956.5(CEP164):c.1234-2A>T
NM_014956.5(CEP164):c.1298del (p.Leu433fs)
NM_014956.5(CEP164):c.1317+2T>G
NM_014956.5(CEP164):c.1318-13_1319del
NM_014956.5(CEP164):c.1409+2T>C
NM_014956.5(CEP164):c.1687del (p.Val563fs)
NM_014956.5(CEP164):c.185G>A (p.Trp62Ter)
NM_014956.5(CEP164):c.1934+1G>A rs951827564
NM_014956.5(CEP164):c.1935-1G>C
NM_014956.5(CEP164):c.1935-1G>T
NM_014956.5(CEP164):c.194+2T>C
NM_014956.5(CEP164):c.2110del (p.Glu704fs)
NM_014956.5(CEP164):c.2280dup (p.Glu761fs)
NM_014956.5(CEP164):c.2283+1G>C
NM_014956.5(CEP164):c.2283+2T>C rs1459158279
NM_014956.5(CEP164):c.2284-1G>A rs1391874809
NM_014956.5(CEP164):c.2361+1G>A
NM_014956.5(CEP164):c.2362-1G>T
NM_014956.5(CEP164):c.2535_2536dup (p.Glu846fs)
NM_014956.5(CEP164):c.2536dup (p.Glu846fs)
NM_014956.5(CEP164):c.2562del (p.Met854fs) rs1565582604
NM_014956.5(CEP164):c.2608G>T (p.Glu870Ter)
NM_014956.5(CEP164):c.2616+1G>A rs2136378484
NM_014956.5(CEP164):c.276T>G (p.Tyr92Ter) rs373403222
NM_014956.5(CEP164):c.2914-1G>C
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter) rs1323529877
NM_014956.5(CEP164):c.3216+1del
NM_014956.5(CEP164):c.3355C>T (p.Gln1119Ter)
NM_014956.5(CEP164):c.3437del (p.Gln1146fs)
NM_014956.5(CEP164):c.347del (p.Lys116fs) rs751277203
NM_014956.5(CEP164):c.347dup (p.Glu117fs)
NM_014956.5(CEP164):c.3609+1G>T
NM_014956.5(CEP164):c.3748+2T>C
NM_014956.5(CEP164):c.3749-2A>G rs1482717760
NM_014956.5(CEP164):c.381dup (p.Lys128fs) rs747914869
NM_014956.5(CEP164):c.4001G>A (p.Trp1334Ter)
NM_014956.5(CEP164):c.4006_4025del (p.Trp1336fs)
NM_014956.5(CEP164):c.4096+1G>C
NM_014956.5(CEP164):c.4287-1G>T
NM_014956.5(CEP164):c.4293_4294del (p.Phe1432fs) rs756288878
NM_014956.5(CEP164):c.552+1G>C rs2041038603
NM_014956.5(CEP164):c.553-1G>A rs2041099865
NM_014956.5(CEP164):c.559C>T (p.Gln187Ter)
NM_014956.5(CEP164):c.580del (p.Tyr194fs)
NM_014956.5(CEP164):c.623_626delinsTGA (p.Ala208fs)
NM_014956.5(CEP164):c.687+1G>A
NM_014956.5(CEP164):c.688-2A>C rs370034077
NM_014956.5(CEP164):c.749dup (p.Gly250_Asp251insTer) rs1402460878
NM_014956.5(CEP164):c.765+1G>A rs2041251614
NM_014956.5(CEP164):c.766-2A>G rs2135912935
NM_014956.5(CEP164):c.893_894delinsAAA (p.Gly298fs)
NM_014956.5(CEP164):c.912_913dup (p.Gly305fs)

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