ClinVar Miner

List of variants reported as benign for Nephronophthisis 16

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_173551.5(ANKS6):c.1930G>A (p.Val644Ile) rs6415847 0.94319
NM_173551.5(ANKS6):c.1617+86C>T rs4742741 0.70439
NM_173551.5(ANKS6):c.360-126C>A rs7038640 0.64307
NM_173551.5(ANKS6):c.360-67A>G rs7027771 0.56802
NM_173551.5(ANKS6):c.165C>T (p.Ala55=) rs138948716 0.27756
NM_173551.5(ANKS6):c.330C>T (p.Tyr110=) rs76903503 0.10576
NM_173551.5(ANKS6):c.585G>A (p.Leu195=) rs75634918 0.00976
NM_173551.5(ANKS6):c.1767G>A (p.Ala589=) rs115807585 0.00974
NM_173551.5(ANKS6):c.862+20G>A rs115965425 0.00695
NM_173551.5(ANKS6):c.1854C>T (p.Leu618=) rs150228036 0.00478
NM_173551.5(ANKS6):c.664C>T (p.Arg222Trp) rs41283630 0.00475
NM_173551.5(ANKS6):c.658G>A (p.Ala220Thr) rs200419394 0.00287
NM_173551.5(ANKS6):c.603C>T (p.His201=) rs137870160 0.00264
NM_173551.5(ANKS6):c.1565A>G (p.Asn522Ser) rs148071928 0.00229
NM_173551.5(ANKS6):c.1740C>T (p.Asn580=) rs141868637 0.00184
NM_173551.5(ANKS6):c.615C>T (p.Ala205=) rs145249233 0.00172
NM_173551.5(ANKS6):c.1008G>A (p.Thr336=) rs373872443 0.00107
NM_173551.5(ANKS6):c.1533A>C (p.Ala511=) rs200743968 0.00102
NM_173551.5(ANKS6):c.1112+18G>A rs146595455 0.00083
NM_173551.5(ANKS6):c.1112+11G>A rs376760447 0.00081
NM_173551.5(ANKS6):c.1782C>T (p.Ala594=) rs78732864 0.00077
NM_173551.5(ANKS6):c.937G>A (p.Asp313Asn) rs79073889 0.00060
NM_173551.5(ANKS6):c.2593C>T (p.Pro865Ser) rs199851177 0.00058
NM_173551.5(ANKS6):c.975C>T (p.Asp325=) rs76803608 0.00055
NM_173551.5(ANKS6):c.1468G>A (p.Glu490Lys) rs201174056 0.00052
NM_173551.5(ANKS6):c.1828G>A (p.Val610Ile) rs138782444 0.00050
NM_173551.5(ANKS6):c.537A>G (p.Gln179=) rs200417280 0.00048
NM_173551.5(ANKS6):c.908-16C>T rs375604399 0.00021
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00019
NM_173551.5(ANKS6):c.2127C>T (p.Ser709=) rs553135386 0.00011
NM_173551.5(ANKS6):c.1680A>G (p.Pro560=) rs181786617 0.00009
NM_173551.5(ANKS6):c.1125T>C (p.Ile375=) rs200355078 0.00003
NM_173551.5(ANKS6):c.2613G>A (p.Ala871=) rs376268978 0.00001
NM_173551.5(ANKS6):c.1113-6dup
NM_173551.5(ANKS6):c.2203C>G (p.Pro735Ala) rs79414550
NM_173551.5(ANKS6):c.2327-19del rs575021016
NM_173551.5(ANKS6):c.2327-19dup rs575021016
NM_173551.5(ANKS6):c.862+19dup rs764379773

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