ClinVar Miner

List of variants reported as benign for Nephronophthisis 15 by Invitae

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Total variants: 24
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HGVS dbSNP
NM_014956.5(CEP164):c.1430A>G (p.His477Arg) rs117083334
NM_014956.5(CEP164):c.1480C>A (p.Pro494Thr) rs114396665
NM_014956.5(CEP164):c.1639G>A (p.Glu547Lys) rs116343381
NM_014956.5(CEP164):c.2205C>T (p.Ser735=) rs494553
NM_014956.5(CEP164):c.2466T>C (p.Ser822=) rs563608251
NM_014956.5(CEP164):c.2655C>T (p.Thr885=) rs61737637
NM_014956.5(CEP164):c.2772C>G (p.Leu924=) rs117473319
NM_014956.5(CEP164):c.2920A>G (p.Thr974Ala) rs56699807
NM_014956.5(CEP164):c.3216+20_3216+33del rs200103555
NM_014956.5(CEP164):c.3225C>T (p.Thr1075=) rs144421639
NM_014956.5(CEP164):c.3364C>T (p.Arg1122Cys) rs149875085
NM_014956.5(CEP164):c.3484C>A (p.Arg1162Ser) rs138487235
NM_014956.5(CEP164):c.3556C>T (p.Leu1186=) rs138861857
NM_014956.5(CEP164):c.3716C>T (p.Pro1239Leu) rs61995733
NM_014956.5(CEP164):c.3773C>T (p.Ser1258Phe) rs148424362
NM_014956.5(CEP164):c.3927C>T (p.Thr1309=) rs115051850
NM_014956.5(CEP164):c.3931A>C (p.Thr1311Pro) rs756182128
NM_014956.5(CEP164):c.3932C>G (p.Thr1311Ser) rs61743854
NM_014956.5(CEP164):c.3937A>C (p.Thr1313Pro) rs758240656
NM_014956.5(CEP164):c.395C>G (p.Ala132Gly) rs61746874
NM_014956.5(CEP164):c.4053G>A (p.Thr1351=) rs373842310
NM_014956.5(CEP164):c.4119C>T (p.Asn1373=) rs73016324
NM_014956.5(CEP164):c.688-7T>C rs539939395
NM_014956.5(CEP164):c.748G>A (p.Gly250Ser) rs146501105

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