ClinVar Miner

List of variants reported as uncertain significance for Branchiootic syndrome 3

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_005982.4(SIX1):c.*249A>G rs867880214 0.00147
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.*736T>G rs768828257 0.00026
NM_005982.4(SIX1):c.*1080A>T rs931132506 0.00019
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.*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.-213C>G rs771815597
NM_005982.4(SIX1):c.-213C>T rs771815597
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.328C>G (p.Arg110Gly) rs80356459
NM_005982.4(SIX1):c.495C>T (p.Thr165=) rs1181935324
NM_005982.4(SIX1):c.620A>C (p.Glu207Ala) rs1894944353

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