List of variants in gene NEK8 studied for renal-hepatic-pancreatic dysplasia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 152

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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.889+18G>A	rs141084448	0.00107
NM_178170.3(NEK8):c.1489G>C (p.Ala497Pro)	rs146326420	0.00106
NM_178170.3(NEK8):c.1299+3G>T	rs201629139	0.00087
NM_178170.3(NEK8):c.419G>T (p.Arg140Leu)	rs141599330	0.00048
NM_178170.3(NEK8):c.936G>A (p.Ser312=)	rs146798411	0.00026
NM_178170.3(NEK8):c.1967G>A (p.Arg656Gln)	rs368453150	0.00024
NM_178170.3(NEK8):c.1055G>T (p.Arg352Leu)	rs199933041	0.00022
NM_178170.3(NEK8):c.1263G>A (p.Gly421=)	rs147061645	0.00018
NM_178170.3(NEK8):c.1145C>T (p.Ser382Leu)	rs146989750	0.00014
NM_178170.3(NEK8):c.1246G>A (p.Gly416Ser)	rs199823733	0.00014
NM_178170.3(NEK8):c.2072C>T (p.Pro691Leu)	rs373048342	0.00013
NM_178170.3(NEK8):c.880C>T (p.Arg294Cys)	rs146113045	0.00012
NM_178170.3(NEK8):c.1148G>A (p.Arg383His)	rs138066977	0.00011
NM_178170.3(NEK8):c.583G>A (p.Glu195Lys)	rs752331372	0.00011
NM_178170.3(NEK8):c.1043C>T (p.Thr348Met)	rs376531637	0.00009
NM_178170.3(NEK8):c.889+17C>T	rs577084302	0.00009
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter)	rs375661404	0.00007
NM_178170.3(NEK8):c.1078C>T (p.Pro360Ser)	rs368688884	0.00006
NM_178170.3(NEK8):c.1100G>C (p.Ser367Thr)	rs374175041	0.00006
NM_178170.3(NEK8):c.1179C>G (p.Ile393Met)	rs775138270	0.00006
NM_178170.3(NEK8):c.1252G>A (p.Gly418Ser)	rs144859767	0.00006
NM_178170.3(NEK8):c.1992C>G (p.His664Gln)	rs145275797	0.00006
NM_178170.3(NEK8):c.2048G>A (p.Arg683Gln)	rs199635350	0.00006
NM_178170.3(NEK8):c.976C>T (p.Arg326Trp)	rs56286645	0.00006
NM_178170.3(NEK8):c.977G>A (p.Arg326Gln)	rs200972000	0.00006
NM_178170.3(NEK8):c.1804C>T (p.Arg602Trp)	rs773883764	0.00005
NM_178170.3(NEK8):c.1915A>C (p.Lys639Gln)	rs148904248	0.00005
NM_178170.3(NEK8):c.1736C>T (p.Ser579Leu)	rs149987249	0.00004
NM_178170.3(NEK8):c.1771G>A (p.Gly591Arg)	rs754159776	0.00004
NM_178170.3(NEK8):c.2000C>T (p.Thr667Met)	rs147625932	0.00004
NM_178170.3(NEK8):c.22C>G (p.Arg8Gly)	rs199621354	0.00004
NM_178170.3(NEK8):c.269A>G (p.Glu90Gly)	rs779113821	0.00004
NM_178170.3(NEK8):c.801C>T (p.Thr267=)	rs754756615	0.00004
NM_178170.3(NEK8):c.9G>A (p.Lys3=)	rs759474870	0.00003
NM_178170.3(NEK8):c.1793G>A (p.Arg598His)	rs771392691	0.00002
NM_178170.3(NEK8):c.379C>T (p.Arg127Ter)	rs752792782	0.00002
NM_178170.3(NEK8):c.889+1G>T	rs780247729	0.00002
NM_178170.3(NEK8):c.1000G>A (p.Val334Met)	rs771928671	0.00001
NM_178170.3(NEK8):c.1035C>T (p.Ala345=)	rs751987503	0.00001
NM_178170.3(NEK8):c.1036G>A (p.Gly346Ser)	rs1179113718	0.00001
NM_178170.3(NEK8):c.1092C>T (p.Gly364=)	rs201321032	0.00001
NM_178170.3(NEK8):c.1166C>T (p.Ser389Leu)	rs199853008	0.00001
NM_178170.3(NEK8):c.2010C>T (p.Ser670=)	rs566162608	0.00001
NM_178170.3(NEK8):c.2077del (p.Ter693GluextTer?)	rs746234904	0.00001
NM_178170.3(NEK8):c.673G>C (p.Asp225His)	rs1403766728	0.00001
NM_178170.3(NEK8):c.857C>G (p.Thr286Arg)	rs903553470	0.00001
NM_178170.3(NEK8):c.935C>T (p.Ser312Leu)	rs200212844	0.00001
NM_178170.3(NEK8):c.985A>G (p.Met329Val)	rs142234912	0.00001
NM_178170.3(NEK8):c.1024A>G (p.Thr342Ala)
NM_178170.3(NEK8):c.1068G>A (p.Trp356Ter)
NM_178170.3(NEK8):c.106C>G (p.Pro36Ala)
NM_178170.3(NEK8):c.1071+13G>C	rs775567721
NM_178170.3(NEK8):c.1071G>A (p.Glu357=)
NM_178170.3(NEK8):c.1114G>T (p.Ala372Ser)
NM_178170.3(NEK8):c.1147C>T (p.Arg383Cys)
NM_178170.3(NEK8):c.1148G>C (p.Arg383Pro)
NM_178170.3(NEK8):c.1224_1227del
NM_178170.3(NEK8):c.1232T>G (p.Ile411Ser)
NM_178170.3(NEK8):c.1251C>G (p.Ser417Arg)
NM_178170.3(NEK8):c.1271G>C (p.Gly424Ala)
NM_178170.3(NEK8):c.127G>A (p.Glu43Lys)
NM_178170.3(NEK8):c.1280G>A (p.Ser427Asn)
NM_178170.3(NEK8):c.1316C>T (p.Ala439Val)
NM_178170.3(NEK8):c.131A>T (p.Glu44Val)
NM_178170.3(NEK8):c.1359_1360del (p.His454fs)	rs1282492342
NM_178170.3(NEK8):c.1363G>A (p.Val455Met)
NM_178170.3(NEK8):c.1363G>C (p.Val455Leu)
NM_178170.3(NEK8):c.1373T>G (p.Leu458Arg)
NM_178170.3(NEK8):c.1384C>T (p.Arg462Ter)	rs770284675
NM_178170.3(NEK8):c.1385G>A (p.Arg462Gln)
NM_178170.3(NEK8):c.1401G>A (p.Trp467Ter)	rs762826555
NM_178170.3(NEK8):c.1405C>T (p.Arg469Cys)
NM_178170.3(NEK8):c.1417G>A (p.Gly473Ser)
NM_178170.3(NEK8):c.1418-1G>A
NM_178170.3(NEK8):c.142G>C (p.Ala48Pro)
NM_178170.3(NEK8):c.1465G>A (p.Val489Met)
NM_178170.3(NEK8):c.1481G>C (p.Gly494Ala)
NM_178170.3(NEK8):c.1495C>T (p.Arg499Ter)
NM_178170.3(NEK8):c.1496G>T (p.Arg499Leu)
NM_178170.3(NEK8):c.1688T>C (p.Leu563Pro)
NM_178170.3(NEK8):c.1732+8_1732+10del	rs3833163
NM_178170.3(NEK8):c.1737G>A (p.Ser579=)
NM_178170.3(NEK8):c.1738G>A (p.Gly580Ser)	rs751440831
NM_178170.3(NEK8):c.1796G>A (p.Arg599Gln)
NM_178170.3(NEK8):c.1805G>A (p.Arg602Gln)
NM_178170.3(NEK8):c.181C>G (p.Pro61Ala)
NM_178170.3(NEK8):c.1823A>G (p.Gln608Arg)
NM_178170.3(NEK8):c.1853T>C (p.Val618Ala)
NM_178170.3(NEK8):c.1882A>C (p.Ile628Leu)
NM_178170.3(NEK8):c.1910G>A (p.Trp637Ter)
NM_178170.3(NEK8):c.1916A>C (p.Lys639Thr)
NM_178170.3(NEK8):c.1919G>C (p.Gly640Ala)
NM_178170.3(NEK8):c.1922C>G (p.Ala641Gly)
NM_178170.3(NEK8):c.1958G>A (p.Gly653Glu)
NM_178170.3(NEK8):c.1966C>G (p.Arg656Gly)
NM_178170.3(NEK8):c.2018G>C (p.Cys673Ser)
NM_178170.3(NEK8):c.202G>A (p.Glu68Lys)
NM_178170.3(NEK8):c.2050+1G>A
NM_178170.3(NEK8):c.2068G>A (p.Val690Ile)	rs118111521
NM_178170.3(NEK8):c.2068G>T (p.Val690Phe)
NM_178170.3(NEK8):c.2071C>T (p.Pro691Ser)
NM_178170.3(NEK8):c.2074C>A (p.Pro692Thr)
NM_178170.3(NEK8):c.2075C>A (p.Pro692His)
NM_178170.3(NEK8):c.2076_2077del (p.Ter693ArgextTer?)
NM_178170.3(NEK8):c.2076dup (p.Ter693LeuextTer?)	rs755820155
NM_178170.3(NEK8):c.241G>A (p.Glu81Lys)
NM_178170.3(NEK8):c.253+4G>A
NM_178170.3(NEK8):c.253+5G>A
NM_178170.3(NEK8):c.254-8G>A
NM_178170.3(NEK8):c.259A>G (p.Thr87Ala)	rs1555563787
NM_178170.3(NEK8):c.274A>T (p.Ile92Phe)
NM_178170.3(NEK8):c.280A>C (p.Lys94Gln)
NM_178170.3(NEK8):c.300G>A (p.Leu100=)
NM_178170.3(NEK8):c.301GAG[2] (p.Glu103del)	rs2034346766
NM_178170.3(NEK8):c.307G>A (p.Glu103Lys)
NM_178170.3(NEK8):c.322TTC[1] (p.Phe109del)	rs772543894
NM_178170.3(NEK8):c.368T>A (p.Leu123His)
NM_178170.3(NEK8):c.37G>A (p.Gly13Ser)
NM_178170.3(NEK8):c.406C>T (p.Leu136Phe)
NM_178170.3(NEK8):c.418C>T (p.Arg140Cys)
NM_178170.3(NEK8):c.427G>A (p.Val143Ile)
NM_178170.3(NEK8):c.467G>A (p.Ser156Asn)
NM_178170.3(NEK8):c.47+1G>A	rs1367268677
NM_178170.3(NEK8):c.486G>A (p.Thr162=)
NM_178170.3(NEK8):c.508A>T (p.Ile170Phe)
NM_178170.3(NEK8):c.514C>A (p.Pro172Thr)
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.618_618+7dup
NM_178170.3(NEK8):c.667A>G (p.Ile223Val)
NM_178170.3(NEK8):c.675C>A (p.Asp225Glu)
NM_178170.3(NEK8):c.695G>A (p.Arg232His)
NM_178170.3(NEK8):c.724G>C (p.Glu242Gln)
NM_178170.3(NEK8):c.763C>T (p.Gln255Ter)
NM_178170.3(NEK8):c.767C>G (p.Pro256Arg)
NM_178170.3(NEK8):c.778C>T (p.Arg260Cys)
NM_178170.3(NEK8):c.779G>A (p.Arg260His)
NM_178170.3(NEK8):c.793C>G (p.Leu265Val)
NM_178170.3(NEK8):c.809G>A (p.Gly270Asp)
NM_178170.3(NEK8):c.817C>T (p.Arg273Cys)
NM_178170.3(NEK8):c.841G>A (p.Val281Met)
NM_178170.3(NEK8):c.852C>A (p.Ser284Arg)
NM_178170.3(NEK8):c.889+7G>A
NM_178170.3(NEK8):c.88G>A (p.Val30Met)
NM_178170.3(NEK8):c.91A>G (p.Ile31Val)
NM_178170.3(NEK8):c.953G>A (p.Gly318Asp)
NM_178170.3(NEK8):c.968C>T (p.Thr323Ile)
NM_178170.3(NEK8):c.972C>G (p.Pro324=)	rs779393817
NM_178170.3(NEK8):c.988C>T (p.Leu330Phe)
NM_178170.3(NEK8):c.995_996del (p.Thr332fs)

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