ClinVar Miner

List of variants reported as uncertain significance for Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23

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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_005982.4(SIX1):c.578A>T (p.Asn193Ile) rs142301715 0.00032
NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr) rs144481204 0.00018
NM_005982.4(SIX1):c.681C>A (p.Asp227Glu) rs149265761 0.00004
NM_005982.4(SIX1):c.191G>A (p.Arg64His) rs1051653507 0.00003
NC_000014.8:g.(?_60976117)_(61191013_?)dup
NC_000014.8:g.(?_60976117)_(61447691_?)del
NM_005982.4(SIX1):c.113C>T (p.Pro38Leu)
NM_005982.4(SIX1):c.115G>T (p.Ala39Ser) rs1431824329
NM_005982.4(SIX1):c.139G>C (p.Glu47Gln)
NM_005982.4(SIX1):c.141G>C (p.Glu47Asp)
NM_005982.4(SIX1):c.14C>A (p.Pro5Gln)
NM_005982.4(SIX1):c.14C>T (p.Pro5Leu)
NM_005982.4(SIX1):c.184A>C (p.Asn62His)
NM_005982.4(SIX1):c.190C>T (p.Arg64Cys)
NM_005982.4(SIX1):c.216C>A (p.Ser72Arg)
NM_005982.4(SIX1):c.241C>T (p.Pro81Ser)
NM_005982.4(SIX1):c.250C>T (p.Gln84Ter)
NM_005982.4(SIX1):c.296G>A (p.Arg99His)
NM_005982.4(SIX1):c.321C>T (p.Gly107=)
NM_005982.4(SIX1):c.347C>T (p.Pro116Leu)
NM_005982.4(SIX1):c.356G>A (p.Arg119His)
NM_005982.4(SIX1):c.385T>A (p.Tyr129Asn)
NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser) rs104894478
NM_005982.4(SIX1):c.3G>C (p.Met1Ile)
NM_005982.4(SIX1):c.419G>A (p.Arg140Gln) rs2140241105
NM_005982.4(SIX1):c.421G>A (p.Glu141Lys)
NM_005982.4(SIX1):c.422A>G (p.Glu141Gly)
NM_005982.4(SIX1):c.428A>G (p.Tyr143Cys)
NM_005982.4(SIX1):c.429C>G (p.Tyr143Ter)
NM_005982.4(SIX1):c.431C>T (p.Ala144Val)
NM_005982.4(SIX1):c.446del (p.Pro149fs)
NM_005982.4(SIX1):c.457G>C (p.Glu153Gln)
NM_005982.4(SIX1):c.464G>A (p.Arg155Gln)
NM_005982.4(SIX1):c.468_480dup (p.Thr161fs)
NM_005982.4(SIX1):c.482C>G (p.Thr161Ser)
NM_005982.4(SIX1):c.487C>T (p.Leu163Phe)
NM_005982.4(SIX1):c.493A>G (p.Thr165Ala)
NM_005982.4(SIX1):c.494C>T (p.Thr165Ile)
NM_005982.4(SIX1):c.502G>A (p.Val168Ile)
NM_005982.4(SIX1):c.510C>G (p.Asn170Lys) rs1555366309
NM_005982.4(SIX1):c.522C>A (p.Asn174Lys)
NM_005982.4(SIX1):c.524G>A (p.Arg175Gln) rs2140240984
NM_005982.4(SIX1):c.528G>T (p.Arg176Ser)
NM_005982.4(SIX1):c.550G>A (p.Ala184Thr)
NM_005982.4(SIX1):c.568A>C (p.Thr190Pro)
NM_005982.4(SIX1):c.577A>G (p.Asn193Asp)
NM_005982.4(SIX1):c.582C>T (p.Asn194=)
NM_005982.4(SIX1):c.583TCC[2] (p.Ser197del)
NM_005982.4(SIX1):c.597G>A (p.Lys199=)
NM_005982.4(SIX1):c.614C>T (p.Pro205Leu)
NM_005982.4(SIX1):c.620A>C (p.Glu207Ala) rs1894944353
NM_005982.4(SIX1):c.638T>C (p.Met213Thr)
NM_005982.4(SIX1):c.644G>T (p.Ser215Ile) rs540778343
NM_005982.4(SIX1):c.671A>G (p.Gln224Arg)
NM_005982.4(SIX1):c.689C>T (p.Ser230Leu)
NM_005982.4(SIX1):c.693C>A (p.Val231=)
NM_005982.4(SIX1):c.697C>A (p.Leu233Met)
NM_005982.4(SIX1):c.713T>A (p.Met238Lys)
NM_005982.4(SIX1):c.722C>A (p.Ala241Asp)
NM_005982.4(SIX1):c.733A>T (p.Asn245Tyr)
NM_005982.4(SIX1):c.749G>A (p.Gly250Asp)
NM_005982.4(SIX1):c.761C>T (p.Ser254Leu)
NM_005982.4(SIX1):c.775G>T (p.Gly259Cys)
NM_005982.4(SIX1):c.779T>A (p.Leu260Gln)
NM_005982.4(SIX1):c.811_812del (p.Leu271fs) rs762353418
NM_005982.4(SIX1):c.812T>C (p.Leu271Pro)
NM_005982.4(SIX1):c.815T>C (p.Leu272Pro)
NM_005982.4(SIX1):c.816dup (p.Gly273fs)
NM_005982.4(SIX1):c.817G>A (p.Gly273Ser)
NM_005982.4(SIX1):c.838G>A (p.Val280Met) rs2140239343
NM_005982.4(SIX1):c.843C>A (p.Asp281Glu)
NM_005982.4(SIX1):c.847G>A (p.Gly283Arg)

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