ClinVar Miner

List of variants reported as likely benign for Nephronophthisis 9

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_178170.3(NEK8):c.*578A>C rs185303602 0.01535
NM_178170.3(NEK8):c.1237A>C (p.Met413Leu) rs141650477 0.00172
NM_178170.3(NEK8):c.889+18G>A rs141084448 0.00107
NM_178170.3(NEK8):c.1299+3G>T rs201629139 0.00087
NM_178170.3(NEK8):c.385C>T (p.Leu129Phe) rs201202318 0.00045
NM_178170.3(NEK8):c.907G>A (p.Val303Met) rs78886485 0.00037
NM_178170.3(NEK8):c.1770C>T (p.His590=) rs183536507 0.00027
NM_178170.3(NEK8):c.936G>A (p.Ser312=) rs146798411 0.00026
NM_178170.3(NEK8):c.1938A>C (p.Gly646=) rs138629865 0.00024
NM_178170.3(NEK8):c.294C>G (p.Ser98=) rs140255077 0.00019
NM_178170.3(NEK8):c.1263G>A (p.Gly421=) rs147061645 0.00018
NM_178170.3(NEK8):c.1464G>A (p.Gln488=) rs200147224 0.00014
NM_178170.3(NEK8):c.889+17C>T rs577084302 0.00009
NM_178170.3(NEK8):c.1539T>C (p.Pro513=) rs368315047 0.00006
NM_178170.3(NEK8):c.1039G>A (p.Val347Ile) rs372172665 0.00004
NM_178170.3(NEK8):c.1251C>T (p.Ser417=) rs149239987 0.00004
NM_178170.3(NEK8):c.48-10G>A rs769058088 0.00003
NM_178170.3(NEK8):c.9G>A (p.Lys3=) rs759474870 0.00003
NM_178170.3(NEK8):c.1035C>T (p.Ala345=) rs751987503 0.00001
NM_178170.3(NEK8):c.1092C>T (p.Gly364=) rs201321032 0.00001
NM_178170.3(NEK8):c.1485G>A (p.Gln495=) rs371752114 0.00001
NM_178170.3(NEK8):c.1773A>G (p.Gly591=) rs777022361 0.00001
NM_178170.3(NEK8):c.435C>T (p.Ile145=) rs773267212 0.00001
NM_178170.3(NEK8):c.444C>T (p.Phe148=) rs776495618 0.00001
NM_178170.3(NEK8):c.579C>T (p.Leu193=) rs756486155 0.00001
NM_178170.3(NEK8):c.827+20G>A rs375021668 0.00001
NM_178170.3(NEK8):c.984A>G (p.Pro328=) rs1335338134 0.00001
NM_178170.3(NEK8):c.1038C>T (p.Gly346=)
NM_178170.3(NEK8):c.1044G>A (p.Thr348=)
NM_178170.3(NEK8):c.1071+12del
NM_178170.3(NEK8):c.1071+13G>C rs775567721
NM_178170.3(NEK8):c.1071+17G>T
NM_178170.3(NEK8):c.1072-16C>A
NM_178170.3(NEK8):c.1086T>A (p.Gly362=)
NM_178170.3(NEK8):c.1158G>A (p.Glu386=) rs1213574842
NM_178170.3(NEK8):c.1222+11G>C
NM_178170.3(NEK8):c.1222+12G>A
NM_178170.3(NEK8):c.1223-20C>T
NM_178170.3(NEK8):c.1245C>T (p.Phe415=)
NM_178170.3(NEK8):c.1368G>A (p.Leu456=)
NM_178170.3(NEK8):c.1512C>T (p.Ile504=)
NM_178170.3(NEK8):c.1568+14C>T
NM_178170.3(NEK8):c.1593C>T (p.His531=)
NM_178170.3(NEK8):c.1653A>C (p.Thr551=)
NM_178170.3(NEK8):c.1701C>T (p.Asp567=)
NM_178170.3(NEK8):c.1710T>C (p.Thr570=)
NM_178170.3(NEK8):c.1732+13T>G
NM_178170.3(NEK8):c.1732+8_1732+10del rs3833163
NM_178170.3(NEK8):c.1891+9_1891+10del
NM_178170.3(NEK8):c.1892-20C>T
NM_178170.3(NEK8):c.1893G>A (p.Glu631=)
NM_178170.3(NEK8):c.1905C>T (p.Tyr635=)
NM_178170.3(NEK8):c.1923G>A (p.Ala641=)
NM_178170.3(NEK8):c.1956C>A (p.Ala652=) rs1471645717
NM_178170.3(NEK8):c.1965T>G (p.Pro655=)
NM_178170.3(NEK8):c.198C>T (p.Tyr66=)
NM_178170.3(NEK8):c.2050+19C>G
NM_178170.3(NEK8):c.2050+20A>G
NM_178170.3(NEK8):c.2073C>G (p.Pro691=) rs750104979
NM_178170.3(NEK8):c.225C>T (p.Ala75=)
NM_178170.3(NEK8):c.234C>T (p.Ile78=)
NM_178170.3(NEK8):c.253+11C>T
NM_178170.3(NEK8):c.253+7C>T
NM_178170.3(NEK8):c.254-12C>T
NM_178170.3(NEK8):c.255C>T (p.Gly85=)
NM_178170.3(NEK8):c.286T>C (p.Cys96Arg)
NM_178170.3(NEK8):c.312C>A (p.Thr104=)
NM_178170.3(NEK8):c.339G>C (p.Leu113=) rs1555563821
NM_178170.3(NEK8):c.47+17G>A
NM_178170.3(NEK8):c.47+20G>T
NM_178170.3(NEK8):c.486+11A>G
NM_178170.3(NEK8):c.486+17G>T
NM_178170.3(NEK8):c.487-9A>G
NM_178170.3(NEK8):c.57C>T (p.His19=)
NM_178170.3(NEK8):c.609C>T (p.Phe203=)
NM_178170.3(NEK8):c.624G>A (p.Leu208=)
NM_178170.3(NEK8):c.750C>T (p.Ser250=)
NM_178170.3(NEK8):c.768C>G (p.Pro256=)
NM_178170.3(NEK8):c.827+18G>A
NM_178170.3(NEK8):c.828-4G>T
NM_178170.3(NEK8):c.889+15G>A
NM_178170.3(NEK8):c.890-20C>A
NM_178170.3(NEK8):c.906T>C (p.Pro302=)
NM_178170.3(NEK8):c.912G>A (p.Arg304=)
NM_178170.3(NEK8):c.972C>G (p.Pro324=) rs779393817

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