ClinVar Miner

List of variants reported as uncertain significance for Nephronophthisis 16

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ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_173551.5(ANKS6):c.532G>A (p.Glu178Lys) rs181546859 0.00103
NM_173551.5(ANKS6):c.565C>G (p.Pro189Ala) rs199653685 0.00063
NM_173551.5(ANKS6):c.2267C>T (p.Ser756Leu) rs199722684 0.00048
NM_173551.5(ANKS6):c.2113C>T (p.Pro705Ser) rs146038901 0.00037
NM_173551.5(ANKS6):c.806A>G (p.Lys269Arg) rs200902480 0.00028
NM_173551.5(ANKS6):c.1883C>T (p.Ser628Phe) rs554990244 0.00022
NM_173551.5(ANKS6):c.643G>A (p.Ala215Thr) rs199530402 0.00021
NM_173551.5(ANKS6):c.1310C>T (p.Ser437Leu) rs60911313 0.00015
NM_173551.5(ANKS6):c.209C>G (p.Pro70Arg) rs1300854819 0.00015
NM_173551.5(ANKS6):c.1099G>T (p.Ala367Ser) rs201416355 0.00011
NM_173551.5(ANKS6):c.1528T>C (p.Ser510Pro) rs201126816 0.00011
NM_173551.5(ANKS6):c.190G>C (p.Ala64Pro) rs1022019420 0.00011
NM_173551.5(ANKS6):c.2233G>A (p.Gly745Arg) rs202244716 0.00011
NM_173551.5(ANKS6):c.1391A>G (p.Asn464Ser) rs201104087 0.00008
NM_173551.5(ANKS6):c.968A>G (p.Asn323Ser) rs368427707 0.00008
NM_173551.5(ANKS6):c.19C>T (p.Pro7Ser) rs961602813 0.00007
NM_173551.5(ANKS6):c.1007C>T (p.Thr336Met) rs376870807 0.00006
NM_173551.5(ANKS6):c.1115A>G (p.Asn372Ser) rs201297615 0.00006
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00006
NM_173551.5(ANKS6):c.1913C>T (p.Ser638Leu) rs200373053 0.00006
NM_173551.5(ANKS6):c.2264C>T (p.Ser755Leu) rs370230003 0.00005
NM_173551.5(ANKS6):c.847G>A (p.Val283Ile) rs748439897 0.00005
NM_173551.5(ANKS6):c.1142A>G (p.Asn381Ser) rs368211870 0.00004
NM_173551.5(ANKS6):c.457C>T (p.Arg153Trp) rs746996270 0.00004
NM_173551.5(ANKS6):c.1421C>T (p.Thr474Met) rs765655284 0.00003
NM_173551.5(ANKS6):c.1430G>A (p.Arg477His) rs368551263 0.00003
NM_173551.5(ANKS6):c.2197A>C (p.Thr733Pro) rs201419783 0.00003
NM_173551.5(ANKS6):c.424C>T (p.Arg142Trp) rs199671276 0.00003
NM_173551.5(ANKS6):c.7G>C (p.Glu3Gln) rs974222769 0.00003
NM_173551.5(ANKS6):c.155C>T (p.Ala52Val) rs1422061469 0.00002
NM_173551.5(ANKS6):c.1942C>T (p.Arg648Trp) rs774030867 0.00002
NM_173551.5(ANKS6):c.1948G>A (p.Gly650Ser) rs761981516 0.00002
NM_173551.5(ANKS6):c.2105C>T (p.Pro702Leu) rs760387934 0.00002
NM_173551.5(ANKS6):c.95G>C (p.Gly32Ala) rs1337342690 0.00002
NM_173551.5(ANKS6):c.1429C>A (p.Arg477Ser) rs770883667 0.00001
NM_173551.5(ANKS6):c.2327A>G (p.Asp776Gly) rs372265310 0.00001
NM_173551.5(ANKS6):c.2503G>A (p.Ala835Thr) rs765164797 0.00001
NM_173551.5(ANKS6):c.2612C>T (p.Ala871Val) rs1047225292 0.00001
NM_173551.5(ANKS6):c.407A>C (p.Asp136Ala) rs1057523009 0.00001
NM_173551.5(ANKS6):c.413A>G (p.Asn138Ser) rs374511363 0.00001
NM_173551.5(ANKS6):c.690G>A (p.Met230Ile) rs201704559 0.00001
NM_173551.5(ANKS6):c.850A>G (p.Arg284Gly) rs781241633 0.00001
NM_173551.5(ANKS6):c.904A>G (p.Met302Val) rs780949680 0.00001
NM_173551.5(ANKS6):c.1011G>T (p.Gly337=) rs1834425438
NM_173551.5(ANKS6):c.1048G>A (p.Ala350Thr)
NM_173551.5(ANKS6):c.1117A>G (p.Lys373Glu) rs2118118181
NM_173551.5(ANKS6):c.1176T>G (p.Asn392Lys) rs776931798
NM_173551.5(ANKS6):c.1219G>A (p.Asp407Asn)
NM_173551.5(ANKS6):c.1220-6C>T rs1371737147
NM_173551.5(ANKS6):c.1235G>A (p.Arg412Gln)
NM_173551.5(ANKS6):c.1301T>C (p.Leu434Pro)
NM_173551.5(ANKS6):c.131A>C (p.Glu44Ala) rs1835177191
NM_173551.5(ANKS6):c.1331G>A (p.Ser444Asn)
NM_173551.5(ANKS6):c.1348G>A (p.Asp450Asn)
NM_173551.5(ANKS6):c.1361G>A (p.Gly454Glu)
NM_173551.5(ANKS6):c.1385T>G (p.Met462Arg) rs2118085004
NM_173551.5(ANKS6):c.1400G>A (p.Arg467Gln)
NM_173551.5(ANKS6):c.1429C>T (p.Arg477Cys)
NM_173551.5(ANKS6):c.1507C>G (p.Pro503Ala) rs200049920
NM_173551.5(ANKS6):c.1508C>G (p.Pro503Arg)
NM_173551.5(ANKS6):c.1690C>G (p.Pro564Ala)
NM_173551.5(ANKS6):c.1721G>A (p.Arg574Gln) rs112147399
NM_173551.5(ANKS6):c.1733G>A (p.Arg578His)
NM_173551.5(ANKS6):c.1766C>A (p.Ala589Glu)
NM_173551.5(ANKS6):c.1820C>T (p.Thr607Ile)
NM_173551.5(ANKS6):c.1918G>A (p.Gly640Ser)
NM_173551.5(ANKS6):c.1940G>A (p.Ser647Asn)
NM_173551.5(ANKS6):c.2041C>G (p.Gln681Glu)
NM_173551.5(ANKS6):c.2052C>A (p.Ser684Arg) rs1554742278
NM_173551.5(ANKS6):c.2057G>A (p.Arg686Gln)
NM_173551.5(ANKS6):c.2077_2078delinsTT (p.Ala693Leu) rs2118011839
NM_173551.5(ANKS6):c.2080C>T (p.Pro694Ser)
NM_173551.5(ANKS6):c.2092C>G (p.Pro698Ala)
NM_173551.5(ANKS6):c.2157C>A (p.Ser719Arg)
NM_173551.5(ANKS6):c.2177C>T (p.Thr726Ile)
NM_173551.5(ANKS6):c.2225C>T (p.Ser742Leu)
NM_173551.5(ANKS6):c.2270C>G (p.Ser757Cys)
NM_173551.5(ANKS6):c.2273A>T (p.His758Leu)
NM_173551.5(ANKS6):c.2287A>G (p.Ser763Gly) rs1440045028
NM_173551.5(ANKS6):c.2321A>G (p.Asp774Gly)
NM_173551.5(ANKS6):c.2324A>T (p.Glu775Val)
NM_173551.5(ANKS6):c.2325G>A (p.Glu775=)
NM_173551.5(ANKS6):c.2331A>C (p.Glu777Asp)
NM_173551.5(ANKS6):c.238A>G (p.Thr80Ala) rs1554752436
NM_173551.5(ANKS6):c.2390A>G (p.Gln797Arg)
NM_173551.5(ANKS6):c.2440del (p.Glu814fs)
NM_173551.5(ANKS6):c.2498T>G (p.Leu833Arg) rs2131933560
NM_173551.5(ANKS6):c.2511+3A>G rs2131933540
NM_173551.5(ANKS6):c.2534A>C (p.Gln845Pro)
NM_173551.5(ANKS6):c.2578A>G (p.Ser860Gly)
NM_173551.5(ANKS6):c.35TGC[4] (p.Leu14_Arg15insLeu)
NM_173551.5(ANKS6):c.362T>G (p.Phe121Cys) rs1478685052
NM_173551.5(ANKS6):c.382C>A (p.His128Asn)
NM_173551.5(ANKS6):c.568T>G (p.Leu190Val)
NM_173551.5(ANKS6):c.607C>T (p.His203Tyr)
NM_173551.5(ANKS6):c.636G>T (p.Glu212Asp)
NM_173551.5(ANKS6):c.664C>G (p.Arg222Gly) rs41283630
NM_173551.5(ANKS6):c.71C>T (p.Thr24Met)
NM_173551.5(ANKS6):c.733G>T (p.Val245Leu)
NM_173551.5(ANKS6):c.743G>T (p.Gly248Val) rs375860547
NM_173551.5(ANKS6):c.74C>T (p.Ala25Val)
NM_173551.5(ANKS6):c.750C>G (p.Asn250Lys)
NM_173551.5(ANKS6):c.836C>T (p.Pro279Leu)
NM_173551.5(ANKS6):c.907+6C>T rs372343956
NM_173551.5(ANKS6):c.915C>A (p.Phe305Leu) rs765738085
NM_173551.5(ANKS6):c.983C>T (p.Thr328Met)
NM_173551.5(ANKS6):c.994C>G (p.Leu332Val)

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