ClinVar Miner

List of variants studied for Branchiootic syndrome 3

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Total variants: 52
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HGVS dbSNP
NM_005982.4(SIX1):c.*1001T>C rs886050568
NM_005982.4(SIX1):c.*1044G>T rs3742637
NM_005982.4(SIX1):c.*1079T>A rs559116477
NM_005982.4(SIX1):c.*1080A>T
NM_005982.4(SIX1):c.*1232T>C
NM_005982.4(SIX1):c.*1251A>G
NM_005982.4(SIX1):c.*140C>T
NM_005982.4(SIX1):c.*1496C>T rs61993831
NM_005982.4(SIX1):c.*161C>A rs886050571
NM_005982.4(SIX1):c.*249A>G
NM_005982.4(SIX1):c.*266C>A
NM_005982.4(SIX1):c.*297T>G rs147081368
NM_005982.4(SIX1):c.*334C>G rs10144415
NM_005982.4(SIX1):c.*371A>G rs538935374
NM_005982.4(SIX1):c.*404A>G rs76116881
NM_005982.4(SIX1):c.*443A>G rs186530769
NM_005982.4(SIX1):c.*602G>C rs78909843
NM_005982.4(SIX1):c.*688C>T
NM_005982.4(SIX1):c.*736T>G rs768828257
NM_005982.4(SIX1):c.*755T>G rs868568764
NM_005982.4(SIX1):c.*766T>A
NM_005982.4(SIX1):c.*767A>T rs574976629
NM_005982.4(SIX1):c.*858C>T
NM_005982.4(SIX1):c.-121C>G rs375002099
NM_005982.4(SIX1):c.-137C>T rs139621918
NM_005982.4(SIX1):c.-14G>T rs374228886
NM_005982.4(SIX1):c.-161G>C rs886050573
NM_005982.4(SIX1):c.-184A>C rs187402923
NM_005982.4(SIX1):c.-185T>C rs745791461
NM_005982.4(SIX1):c.-213C>G rs771815597
NM_005982.4(SIX1):c.-213C>T
NM_005982.4(SIX1):c.-24C>T
NM_005982.4(SIX1):c.-84C>G rs886050572
NM_005982.4(SIX1):c.162G>A (p.Ala54=) rs150550985
NM_005982.4(SIX1):c.180C>G (p.Arg60=) rs781519092
NM_005982.4(SIX1):c.1A>C (p.Met1Leu)
NM_005982.4(SIX1):c.316G>A (p.Val106Met)
NM_005982.4(SIX1):c.328C>T (p.Arg110Trp) rs80356459
NM_005982.4(SIX1):c.330G>A (p.Arg110=) rs73309461
NM_005982.4(SIX1):c.364T>A (p.Trp122Arg) rs121909770
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_005982.4(SIX1):c.397_399del (p.Glu133del) rs80356460
NM_005982.4(SIX1):c.416T>G (p.Leu139Arg)
NM_005982.4(SIX1):c.495C>T (p.Thr165=)
NM_005982.4(SIX1):c.517A>C (p.Lys173Gln)
NM_005982.4(SIX1):c.560+1G>C rs863223330
NM_005982.4(SIX1):c.578A>T (p.Asn193Ile) rs142301715
NM_005982.4(SIX1):c.620A>C (p.Glu207Ala)
NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr) rs144481204
NM_005982.4(SIX1):c.681C>A (p.Asp227Glu)
NM_005982.4(SIX1):c.746C>T (p.Pro249Leu)
NM_005982.4(SIX1):c.822C>T (p.Pro274=) rs368353344

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