ClinVar Miner

List of variants reported as likely benign for Nephronophthisis 16

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_173551.5(ANKS6):c.862+20G>A rs115965425 0.00695
NM_173551.5(ANKS6):c.1854C>T (p.Leu618=) rs150228036 0.00527
NM_173551.5(ANKS6):c.603C>T (p.His201=) rs137870160 0.00264
NM_173551.5(ANKS6):c.193G>T (p.Val65Phe) rs745881769 0.00207
NM_173551.5(ANKS6):c.1525C>A (p.Arg509Ser) rs150567578 0.00164
NM_173551.5(ANKS6):c.615C>T (p.Ala205=) rs145249233 0.00139
NM_173551.5(ANKS6):c.281T>C (p.Val94Ala) rs538147505 0.00131
NM_173551.5(ANKS6):c.1008G>A (p.Thr336=) rs373872443 0.00113
NM_173551.5(ANKS6):c.1533A>C (p.Ala511=) rs200743968 0.00109
NM_173551.5(ANKS6):c.772G>C (p.Glu258Gln) rs200201069 0.00096
NM_173551.5(ANKS6):c.2564T>C (p.Phe855Ser) rs200644058 0.00081
NM_173551.5(ANKS6):c.1782C>T (p.Ala594=) rs78732864 0.00077
NM_173551.5(ANKS6):c.2409G>A (p.Ala803=) rs373756771 0.00065
NM_173551.5(ANKS6):c.1772C>G (p.Pro591Arg) rs116621934 0.00058
NM_173551.5(ANKS6):c.2310C>T (p.Gly770=) rs181456709 0.00056
NM_173551.5(ANKS6):c.975C>T (p.Asp325=) rs76803608 0.00055
NM_173551.5(ANKS6):c.1617+12G>A rs199751679 0.00053
NM_173551.5(ANKS6):c.1458T>C (p.Pro486=) rs201904871 0.00048
NM_173551.5(ANKS6):c.2343C>T (p.Ile781=) rs146161090 0.00045
NM_173551.5(ANKS6):c.537A>G (p.Gln179=) rs200417280 0.00044
NM_173551.5(ANKS6):c.609C>T (p.His203=) rs372936113 0.00042
NM_173551.5(ANKS6):c.583C>T (p.Leu195=) rs200911908 0.00040
NM_173551.5(ANKS6):c.1219+18A>T rs372791631 0.00036
NM_173551.5(ANKS6):c.2143-15T>C rs376048873 0.00035
NM_173551.5(ANKS6):c.498C>T (p.Ala166=) rs374209515 0.00031
NM_173551.5(ANKS6):c.1731G>A (p.Thr577=) rs201821907 0.00021
NM_173551.5(ANKS6):c.908-16C>T rs375604399 0.00021
NM_173551.5(ANKS6):c.2271C>T (p.Ser757=) rs200246959 0.00019
NM_173551.5(ANKS6):c.538C>T (p.Leu180=) rs201725414 0.00017
NM_173551.5(ANKS6):c.2142+14G>T rs545751955 0.00014
NM_173551.5(ANKS6):c.1134T>C (p.Tyr378=) rs200656157 0.00010
NM_173551.5(ANKS6):c.1641C>A (p.Thr547=) rs371491495 0.00009
NM_173551.5(ANKS6):c.354G>A (p.Ala118=) rs980440912 0.00009
NM_173551.5(ANKS6):c.1185G>A (p.Thr395=) rs146980948 0.00008
NM_173551.5(ANKS6):c.1056T>C (p.Val352=) rs770486379 0.00006
NM_173551.5(ANKS6):c.1112+17C>T rs373774638 0.00006
NM_173551.5(ANKS6):c.1803C>T (p.Gly601=) rs747006701 0.00006
NM_173551.5(ANKS6):c.2094G>A (p.Pro698=) rs368311212 0.00006
NM_173551.5(ANKS6):c.1947C>T (p.His649=) rs372845968 0.00005
NM_173551.5(ANKS6):c.1077T>C (p.His359=) rs369418562 0.00004
NM_173551.5(ANKS6):c.1428C>A (p.Pro476=) rs760767896 0.00004
NM_173551.5(ANKS6):c.1917C>T (p.Gly639=) rs369774566 0.00004
NM_173551.5(ANKS6):c.657C>T (p.His219=) rs374878706 0.00004
NM_173551.5(ANKS6):c.1125T>C (p.Ile375=) rs200355078 0.00003
NM_173551.5(ANKS6):c.1989T>C (p.Asn663=) rs756110261 0.00003
NM_173551.5(ANKS6):c.2395-7T>C rs775510768 0.00003
NM_173551.5(ANKS6):c.1618-16A>G rs772363640 0.00002
NM_173551.5(ANKS6):c.1938G>C (p.Val646=) rs372587038 0.00002
NM_173551.5(ANKS6):c.984G>A (p.Thr328=) rs757731263 0.00002
NM_173551.5(ANKS6):c.1200G>A (p.Val400=) rs989677830 0.00001
NM_173551.5(ANKS6):c.1902G>A (p.Ser634=) rs765475331 0.00001
NM_173551.5(ANKS6):c.2487G>A (p.Ala829=) rs758679399 0.00001
NM_173551.5(ANKS6):c.2615G>A (p.Ter872=) rs753848505 0.00001
NM_173551.5(ANKS6):c.549C>T (p.Gly183=) rs769349601 0.00001
NM_173551.5(ANKS6):c.1030C>T (p.Leu344=) rs1834424072
NM_173551.5(ANKS6):c.1071C>T (p.Ser357=)
NM_173551.5(ANKS6):c.1112+16A>G
NM_173551.5(ANKS6):c.1152C>T (p.Ala384=)
NM_173551.5(ANKS6):c.1219+18_1219+19del
NM_173551.5(ANKS6):c.1220-15C>G
NM_173551.5(ANKS6):c.1266T>C (p.Asn422=) rs1588399891
NM_173551.5(ANKS6):c.1347C>T (p.Pro449=)
NM_173551.5(ANKS6):c.1369-13G>A rs530245376
NM_173551.5(ANKS6):c.1407C>G (p.Leu469=)
NM_173551.5(ANKS6):c.1425G>T (p.Leu475=)
NM_173551.5(ANKS6):c.1467C>T (p.Asp489=)
NM_173551.5(ANKS6):c.147G>A (p.Pro49=)
NM_173551.5(ANKS6):c.1536C>T (p.Leu512=)
NM_173551.5(ANKS6):c.1545G>A (p.Ala515=)
NM_173551.5(ANKS6):c.1568-15C>T
NM_173551.5(ANKS6):c.1611A>C (p.Thr537=) rs779026149
NM_173551.5(ANKS6):c.1618-13C>T
NM_173551.5(ANKS6):c.1626C>T (p.Asn542=)
NM_173551.5(ANKS6):c.1632T>A (p.Ala544=) rs2118054951
NM_173551.5(ANKS6):c.1690C>A (p.Pro564Thr) rs190075616
NM_173551.5(ANKS6):c.1701T>C (p.Phe567=)
NM_173551.5(ANKS6):c.1746G>A (p.Lys582=)
NM_173551.5(ANKS6):c.1822-18C>T
NM_173551.5(ANKS6):c.1827C>T (p.Pro609=)
NM_173551.5(ANKS6):c.1911A>G (p.Ser637=)
NM_173551.5(ANKS6):c.1973-6C>T
NM_173551.5(ANKS6):c.1980C>T (p.Ser660=)
NM_173551.5(ANKS6):c.2142+10T>C
NM_173551.5(ANKS6):c.2142+11T>C
NM_173551.5(ANKS6):c.2142+20T>G
NM_173551.5(ANKS6):c.2143-10T>C
NM_173551.5(ANKS6):c.21C>G (p.Pro7=) rs1315525980
NM_173551.5(ANKS6):c.2214G>A (p.Thr738=)
NM_173551.5(ANKS6):c.2220C>T (p.Ser740=)
NM_173551.5(ANKS6):c.2265G>A (p.Ser755=) rs566372073
NM_173551.5(ANKS6):c.2265G>C (p.Ser755=) rs566372073
NM_173551.5(ANKS6):c.2289C>T (p.Ser763=)
NM_173551.5(ANKS6):c.228G>A (p.Glu76=)
NM_173551.5(ANKS6):c.2327-19dup rs575021016
NM_173551.5(ANKS6):c.2327-4G>A
NM_173551.5(ANKS6):c.2394+15T>C
NM_173551.5(ANKS6):c.2394+8T>C
NM_173551.5(ANKS6):c.2395-12C>A
NM_173551.5(ANKS6):c.2395-14C>T
NM_173551.5(ANKS6):c.24G>T (p.Pro8=)
NM_173551.5(ANKS6):c.2502C>T (p.Asn834=) rs201958764
NM_173551.5(ANKS6):c.279G>A (p.Leu93=)
NM_173551.5(ANKS6):c.282G>A (p.Val94=) rs1480325652
NM_173551.5(ANKS6):c.288C>T (p.Phe96=)
NM_173551.5(ANKS6):c.359+10C>A
NM_173551.5(ANKS6):c.359+7C>T
NM_173551.5(ANKS6):c.360-11C>T
NM_173551.5(ANKS6):c.399C>T (p.His133=)
NM_173551.5(ANKS6):c.411C>G (p.Val137=)
NM_173551.5(ANKS6):c.45C>T (p.Arg15=)
NM_173551.5(ANKS6):c.516T>C (p.His172=)
NM_173551.5(ANKS6):c.665G>A (p.Arg222Gln)
NM_173551.5(ANKS6):c.669C>T (p.Thr223=)
NM_173551.5(ANKS6):c.684G>A (p.Pro228=)
NM_173551.5(ANKS6):c.696C>T (p.Ala232=)
NM_173551.5(ANKS6):c.6C>T (p.Gly2=)
NM_173551.5(ANKS6):c.723C>T (p.Ala241=)
NM_173551.5(ANKS6):c.741G>A (p.Lys247=)
NM_173551.5(ANKS6):c.744C>T (p.Gly248=)
NM_173551.5(ANKS6):c.837G>T (p.Pro279=)
NM_173551.5(ANKS6):c.846C>T (p.Thr282=)
NM_173551.5(ANKS6):c.907+8C>G rs775680028
NM_173551.5(ANKS6):c.996A>G (p.Leu332=)

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