ClinVar Miner

List of variants studied for Nephronophthisis 20

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_014994.3(MAPKBP1):c.1970C>T (p.Thr657Ile) rs139165608 0.00121
NM_014994.3(MAPKBP1):c.4030G>T (p.Gly1344Cys) rs75437827 0.00065
NM_014994.3(MAPKBP1):c.3304C>T (p.Arg1102Cys) rs141086610 0.00048
NM_014994.3(MAPKBP1):c.2236C>T (p.Arg746Trp) rs61729964 0.00045
NM_014994.3(MAPKBP1):c.227A>G (p.Asn76Ser) rs199917154 0.00006
NM_014994.3(MAPKBP1):c.2230C>T (p.Arg744Cys) rs756233868 0.00002
NM_014994.3(MAPKBP1):c.1300C>T (p.Arg434Ter) rs202001274 0.00001
NM_014994.3(MAPKBP1):c.1585+15C>T rs546384224 0.00001
NM_014994.3(MAPKBP1):c.4375C>T (p.Arg1459Ter) rs1057519304 0.00001
NM_014994.3(MAPKBP1):c.1270_1271del (p.Ser424fs) rs2152080114
NM_014994.3(MAPKBP1):c.1426A>G (p.Ile476Val)
NM_014994.3(MAPKBP1):c.1613G>A (p.Arg538Gln) rs1057519305
NM_014994.3(MAPKBP1):c.2426-1G>A rs1057519306
NM_014994.3(MAPKBP1):c.260A>G (p.Asn87Ser)
NM_014994.3(MAPKBP1):c.2809C>T (p.Gln937Ter) rs752616462
NM_014994.3(MAPKBP1):c.3662C>T (p.Ala1221Val) rs1797047068
NM_014994.3(MAPKBP1):c.3998G>C (p.Ser1333Thr) rs2065045118
NM_014994.3(MAPKBP1):c.592C>T (p.Arg198Ter) rs1057519303
NM_014994.3(MAPKBP1):c.934C>T (p.Arg312Ter) rs1596088812
NM_014994.3(MAPKBP1):c.97G>C (p.Glu33Gln) rs2064079900

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