ClinVar Miner

List of variants reported as likely benign for Nephronophthisis 15

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Total variants: 25
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HGVS dbSNP
NM_014956.5(CEP164):c.1320C>T (p.Ala440=) rs145815710
NM_014956.5(CEP164):c.1438C>T (p.Arg480Trp) rs112209873
NM_014956.5(CEP164):c.150G>A (p.Ala50=) rs367761983
NM_014956.5(CEP164):c.1691C>T (p.Ala564Val) rs144557388
NM_014956.5(CEP164):c.1692G>A (p.Ala564=) rs143512199
NM_014956.5(CEP164):c.194+10C>T rs1468150420
NM_014956.5(CEP164):c.2021G>A (p.Arg674Gln) rs142184414
NM_014956.5(CEP164):c.2427G>A (p.Lys809=) rs201002987
NM_014956.5(CEP164):c.2519G>T (p.Arg840Leu) rs201901144
NM_014956.5(CEP164):c.2744G>A (p.Arg915His) rs147802563
NM_014956.5(CEP164):c.2772C>G (p.Leu924=) rs117473319
NM_014956.5(CEP164):c.2844+8A>G rs142545580
NM_014956.5(CEP164):c.2845-6T>G rs201515694
NM_014956.5(CEP164):c.3019C>T (p.Arg1007Cys) rs115387935
NM_014956.5(CEP164):c.3032T>C (p.Leu1011Pro) rs138868323
NM_014956.5(CEP164):c.3332G>A (p.Arg1111His) rs61740738
NM_014956.5(CEP164):c.3365G>A (p.Arg1122His) rs144910893
NM_014956.5(CEP164):c.3496G>C (p.Glu1166Gln) rs61745877
NM_014956.5(CEP164):c.3717G>A (p.Pro1239=) rs149567170
NM_014956.5(CEP164):c.3786C>T (p.His1262=) rs373372717
NM_014956.5(CEP164):c.3806G>A (p.Arg1269Gln) rs150963269
NM_014956.5(CEP164):c.380C>A (p.Pro127His) rs143659874
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu) rs143659874
NM_014956.5(CEP164):c.4265G>A (p.Arg1422His) rs74653460
NM_014956.5(CEP164):c.696C>T (p.His232=) rs201189268

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