List of variants reported as uncertain significance for Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 29

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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.1967G>A (p.Arg656Gln)	rs368453150	0.00024
NM_178170.3(NEK8):c.1055G>T (p.Arg352Leu)	rs199933041	0.00022
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.583G>A (p.Glu195Lys)	rs752331372	0.00011
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.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.1736C>T (p.Ser579Leu)	rs149987249	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.1179C>G (p.Ile393Met)	rs775138270	0.00003
NM_178170.3(NEK8):c.1793G>A (p.Arg598His)	rs771392691	0.00002
NM_178170.3(NEK8):c.1000G>A (p.Val334Met)	rs771928671	0.00001
NM_178170.3(NEK8):c.1036G>A (p.Gly346Ser)	rs1179113718	0.00001
NM_178170.3(NEK8):c.1166C>T (p.Ser389Leu)	rs199853008	0.00001
NM_178170.3(NEK8):c.2077del (p.Ter693GluextTer?)	rs746234904	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.2068G>A (p.Val690Ile)	rs118111521

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