List of variants reported as pathogenic for Nephronophthisis 16 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_173551.5(ANKS6):c.1381C>T (p.Arg461Ter)	rs369437168	0.00024
NM_173551.5(ANKS6):c.639G>A (p.Trp213Ter)	rs1190057558	0.00001
NM_173551.5(ANKS6):c.1096C>T (p.Gln366Ter)	rs2490410610
NM_173551.5(ANKS6):c.1300del (p.Leu434fs)	rs2490403576
NM_173551.5(ANKS6):c.1510dup (p.Gln504fs)
NM_173551.5(ANKS6):c.154del (p.Ala52fs)
NM_173551.5(ANKS6):c.1683_1698dup (p.Phe567fs)	rs2490390282
NM_173551.5(ANKS6):c.189_190del (p.Ala64fs)	rs1009311413
NM_173551.5(ANKS6):c.2370_2372del (p.Tyr790_Gln791delinsTer)	rs587777025
NM_173551.5(ANKS6):c.539_540del (p.Leu180fs)	rs1588420907
NM_173551.5(ANKS6):c.694_718dup (p.Val240fs)	rs1564228101
NM_173551.5(ANKS6):c.727C>T (p.Gln243Ter)	rs756090222

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