List of variants reported as uncertain significance for Nephronophthisis 9 by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 74

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HGVS	dbSNP	gnomAD frequency
NM_178170.3(NEK8):c.419G>T (p.Arg140Leu)	rs141599330	0.00048
NM_178170.3(NEK8):c.899G>A (p.Arg300Gln)	rs140077709	0.00039
NM_178170.3(NEK8):c.1093G>A (p.Gly365Arg)	rs202102961	0.00024
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.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.1078C>T (p.Pro360Ser)	rs368688884	0.00006
NM_178170.3(NEK8):c.1100G>C (p.Ser367Thr)	rs374175041	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.2066C>T (p.Pro689Leu)	rs777112980	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.1177A>G (p.Ile393Val)	rs371406871	0.00002
NM_178170.3(NEK8):c.1406G>A (p.Arg469His)	rs762108966	0.00002
NM_178170.3(NEK8):c.1045C>T (p.Arg349Cys)	rs889694432	0.00001
NM_178170.3(NEK8):c.1166C>T (p.Ser389Leu)	rs199853008	0.00001
NM_178170.3(NEK8):c.1523T>A (p.Met508Lys)	rs753200646	0.00001
NM_178170.3(NEK8):c.186T>A (p.Asn62Lys)	rs2034337294	0.00001
NM_178170.3(NEK8):c.2011G>A (p.Val671Met)	rs202119105	0.00001
NM_178170.3(NEK8):c.2077del (p.Ter693GluextTer?)	rs746234904	0.00001
NM_178170.3(NEK8):c.654C>T (p.Gly218=)	rs749113560	0.00001
NM_178170.3(NEK8):c.673G>C (p.Asp225His)	rs1403766728	0.00001
NM_178170.3(NEK8):c.737G>A (p.Arg246Gln)	rs368802852	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.1049C>T (p.Ser350Phe)
NM_178170.3(NEK8):c.1084G>C (p.Gly362Arg)
NM_178170.3(NEK8):c.1204T>C (p.Phe402Leu)
NM_178170.3(NEK8):c.1316C>T (p.Ala439Val)
NM_178170.3(NEK8):c.133C>T (p.Arg45Trp)	rs1567759130
NM_178170.3(NEK8):c.139G>T (p.Ala47Ser)	rs1567759132
NM_178170.3(NEK8):c.1411G>A (p.Asp471Asn)
NM_178170.3(NEK8):c.1439G>C (p.Arg480Thr)
NM_178170.3(NEK8):c.1454G>A (p.Cys485Tyr)
NM_178170.3(NEK8):c.1496G>A (p.Arg499Gln)
NM_178170.3(NEK8):c.1696A>G (p.Ile566Val)
NM_178170.3(NEK8):c.1928G>A (p.Gly643Asp)
NM_178170.3(NEK8):c.1931G>A (p.Arg644Gln)
NM_178170.3(NEK8):c.2050+3G>A	rs780189365
NM_178170.3(NEK8):c.2068G>A (p.Val690Ile)	rs118111521
NM_178170.3(NEK8):c.2075C>G (p.Pro692Arg)
NM_178170.3(NEK8):c.248C>T (p.Ala83Val)
NM_178170.3(NEK8):c.284G>A (p.Arg95His)
NM_178170.3(NEK8):c.287G>T (p.Cys96Phe)
NM_178170.3(NEK8):c.300G>A (p.Leu100=)
NM_178170.3(NEK8):c.313A>G (p.Ile105Val)
NM_178170.3(NEK8):c.328G>A (p.Val110Met)
NM_178170.3(NEK8):c.419G>A (p.Arg140His)	rs141599330
NM_178170.3(NEK8):c.437G>T (p.Gly146Val)	rs770564532
NM_178170.3(NEK8):c.478G>T (p.Ala160Ser)
NM_178170.3(NEK8):c.581A>C (p.Tyr194Ser)	rs1060501399
NM_178170.3(NEK8):c.602G>C (p.Arg201Thr)
NM_178170.3(NEK8):c.650G>C (p.Ser217Thr)
NM_178170.3(NEK8):c.656C>A (p.Thr219Asn)	rs1597806441
NM_178170.3(NEK8):c.779G>A (p.Arg260His)
NM_178170.3(NEK8):c.802G>A (p.Asp268Asn)
NM_178170.3(NEK8):c.841G>A (p.Val281Met)
NM_178170.3(NEK8):c.881G>A (p.Arg294His)	rs762967348
NM_178170.3(NEK8):c.886A>G (p.Arg296Gly)
NM_178170.3(NEK8):c.988C>T (p.Leu330Phe)

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