ClinVar Miner

List of variants studied for Renal-hepatic-pancreatic dysplasia 2

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_178170.3(NEK8):c.1170T>C (p.Gly390=) rs3809797 0.16512
NM_178170.3(NEK8):c.1043C>T (p.Thr348Met) rs376531637 0.00009
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter) rs375661404 0.00007
NM_178170.3(NEK8):c.1804C>T (p.Arg602Trp) rs773883764 0.00005
NM_178170.3(NEK8):c.379C>T (p.Arg127Ter) rs752792782 0.00002
NM_178170.3(NEK8):c.1036G>A (p.Gly346Ser) rs1179113718 0.00001
NM_178170.3(NEK8):c.1148G>C (p.Arg383Pro)
NM_178170.3(NEK8):c.1384C>T (p.Arg462Ter) rs770284675
NM_178170.3(NEK8):c.1401G>A (p.Trp467Ter) rs762826555
NM_178170.3(NEK8):c.1738G>A (p.Gly580Ser) rs751440831
NM_178170.3(NEK8):c.1891+1G>A
NM_178170.3(NEK8):c.2076dup (p.Ter693LeuextTer?) rs755820155
NM_178170.3(NEK8):c.259A>G (p.Thr87Ala) rs1555563787
NM_178170.3(NEK8):c.301GAG[2] (p.Glu103del) rs2034346766
NM_178170.3(NEK8):c.322TTC[1] (p.Phe109del) rs772543894
NM_178170.3(NEK8):c.37G>A (p.Gly13Ser)
NM_178170.3(NEK8):c.47+1G>A rs1367268677
NM_178170.3(NEK8):c.515dup (p.Pro172_Glu173insTer) rs2151732018
NM_178170.3(NEK8):c.536C>G (p.Pro179Arg) rs2151732022
NM_178170.3(NEK8):c.618G>A (p.Ala206=)
NM_178170.3(NEK8):c.972C>G (p.Pro324=) rs779393817

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