List of variants reported as pathogenic for Nephronophthisis 20 by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_014994.3(MAPKBP1):c.1300C>T (p.Arg434Ter)	rs202001274	0.00001
NM_014994.3(MAPKBP1):c.4375C>T (p.Arg1459Ter)	rs1057519304	0.00001
NM_014994.3(MAPKBP1):c.1613G>A (p.Arg538Gln)	rs1057519305
NM_014994.3(MAPKBP1):c.2426-1G>A	rs1057519306
NM_014994.3(MAPKBP1):c.2809C>T (p.Gln937Ter)	rs752616462
NM_014994.3(MAPKBP1):c.592C>T (p.Arg198Ter)	rs1057519303

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