ClinVar Miner

List of variants in gene SIX1 studied for Branchiootic syndrome 3

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_005982.4(SIX1):c.*334C>G rs10144415 0.83338
NM_005982.4(SIX1):c.*602G>C rs78909843 0.02638
NM_005982.4(SIX1):c.*404A>G rs76116881 0.02596
NM_005982.4(SIX1):c.*767A>T rs574976629 0.01905
NM_005982.4(SIX1):c.*1496C>T rs61993831 0.00969
NM_005982.4(SIX1):c.*297T>G rs147081368 0.00707
NM_005982.4(SIX1):c.-137C>T rs139621918 0.00654
NM_005982.4(SIX1):c.*249A>G rs867880214 0.00147
NM_005982.4(SIX1):c.-184A>C rs187402923 0.00127
NM_005982.4(SIX1):c.330G>A (p.Arg110=) rs73309461 0.00078
NM_005982.4(SIX1):c.*443A>G rs186530769 0.00053
NM_005982.4(SIX1):c.*1232T>C rs558532789 0.00044
NM_005982.4(SIX1):c.*766T>A rs63554860 0.00043
NM_005982.4(SIX1):c.*755T>G rs868568764 0.00034
NM_005982.4(SIX1):c.578A>T (p.Asn193Ile) rs142301715 0.00032
NM_005982.4(SIX1):c.-14G>T rs374228886 0.00031
NM_005982.4(SIX1):c.162G>A (p.Ala54=) rs150550985 0.00031
NM_005982.4(SIX1):c.*736T>G rs768828257 0.00026
NM_005982.4(SIX1):c.*1079T>A rs559116477 0.00024
NM_005982.4(SIX1):c.*1080A>T rs931132506 0.00019
NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr) rs144481204 0.00018
NM_005982.4(SIX1):c.*1044G>T rs3742637 0.00014
NM_005982.4(SIX1):c.180C>G (p.Arg60=) rs781519092 0.00011
NM_005982.4(SIX1):c.-121C>G rs375002099 0.00010
NM_005982.4(SIX1):c.-161G>C rs886050573 0.00006
NM_005982.4(SIX1):c.-185T>C rs745791461 0.00006
NM_005982.4(SIX1):c.-24C>T rs201700039 0.00005
NM_005982.4(SIX1):c.*1251A>G rs746385772 0.00004
NM_005982.4(SIX1):c.681C>A (p.Asp227Glu) rs149265761 0.00004
NM_005982.4(SIX1):c.822C>T (p.Pro274=) rs368353344 0.00003
NM_005982.4(SIX1):c.*266C>A rs1049363176 0.00002
NM_005982.4(SIX1):c.*161C>A rs886050571 0.00001
NM_005982.4(SIX1):c.*371A>G rs538935374 0.00001
NM_005982.4(SIX1):c.*1001T>C rs886050568
NM_005982.4(SIX1):c.*140C>T rs1348429370
NM_005982.4(SIX1):c.*688C>T rs1266809909
NM_005982.4(SIX1):c.*858C>T rs1894921331
NM_005982.4(SIX1):c.-84C>G rs886050572
NM_005982.4(SIX1):c.175del (p.His59fs)
NM_005982.4(SIX1):c.190del (p.Arg64fs)
NM_005982.4(SIX1):c.1A>C (p.Met1Leu) rs1895013419
NM_005982.4(SIX1):c.307dup (p.Leu103fs)
NM_005982.4(SIX1):c.316G>A (p.Val106Met) rs2140241235
NM_005982.4(SIX1):c.317T>G (p.Val106Gly) rs397515560
NM_005982.4(SIX1):c.328C>G (p.Arg110Gly) rs80356459
NM_005982.4(SIX1):c.328C>T (p.Arg110Trp) rs80356459
NM_005982.4(SIX1):c.329G>A (p.Arg110Gln) rs1064794308
NM_005982.4(SIX1):c.334C>T (p.Arg112Cys) rs397515561
NM_005982.4(SIX1):c.364T>A (p.Trp122Arg) rs121909770
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys) rs797044960
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_005982.4(SIX1):c.386_391del (p.Tyr129_Cys130del)
NM_005982.4(SIX1):c.397_399del (p.Glu133del) rs80356460
NM_005982.4(SIX1):c.416T>G (p.Leu139Arg) rs1895001312
NM_005982.4(SIX1):c.50T>A (p.Val17Glu) rs397515562
NM_005982.4(SIX1):c.560+1G>C rs863223330
NM_005982.4(SIX1):c.561-34_561-31del rs34899649
NM_005982.4(SIX1):c.620A>C (p.Glu207Ala) rs1894944353
NM_005982.4(SIX1):c.746C>T (p.Pro249Leu) rs368974927

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