ClinVar Miner

List of variants reported as pathogenic for Nephronophthisis 16

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Total variants: 19
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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.1322A>G (p.Gln441Arg) rs377750405 0.00006
NM_173551.5(ANKS6):c.1973-3C>G rs397514257 0.00003
NM_173551.5(ANKS6):c.1096C>T (p.Gln366Ter)
NM_173551.5(ANKS6):c.1300del (p.Leu434fs)
NM_173551.5(ANKS6):c.130_157del (p.Glu44fs) rs1564236717
NM_173551.5(ANKS6):c.1373G>A (p.Trp458Ter)
NM_173551.5(ANKS6):c.1672_1675dup (p.Pro559fs) rs2118054723
NM_173551.5(ANKS6):c.1683_1698dup (p.Phe567fs)
NM_173551.5(ANKS6):c.189_190del (p.Ala64fs)
NM_173551.5(ANKS6):c.2054_2064del (p.His685fs) rs587777024
NM_173551.5(ANKS6):c.2370_2372del (p.Tyr790_Gln791delinsTer) rs587777025
NM_173551.5(ANKS6):c.2394+1G>A
NM_173551.5(ANKS6):c.2512-2A>C rs397514258
NM_173551.5(ANKS6):c.539_540del (p.Leu180fs) rs1588420907
NM_173551.5(ANKS6):c.639G>A (p.Trp213Ter)
NM_173551.5(ANKS6):c.694_718dup (p.Val240fs) rs1564228101
NM_173551.5(ANKS6):c.727C>T (p.Gln243Ter) rs756090222
NM_173551.5(ANKS6):c.907+2T>A rs1438673595

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