ClinVar Miner

List of variants reported as uncertain significance for branchiootic syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_000503.6(EYA1):c.*429T>C rs192602787 0.00165
NM_000503.6(EYA1):c.-173G>T rs886063091 0.00152
NM_005982.4(SIX1):c.*249A>G rs867880214 0.00147
NM_000503.6(EYA1):c.*1672T>A rs777991930 0.00055
NM_000503.6(EYA1):c.*86C>A rs186838732 0.00055
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.*736T>G rs768828257 0.00026
NM_000503.6(EYA1):c.*848G>A rs775498240 0.00023
NM_000503.6(EYA1):c.*1543T>G rs867228117 0.00022
NM_000503.6(EYA1):c.*117G>A rs886063087 0.00019
NM_005982.4(SIX1):c.*1080A>T rs931132506 0.00019
NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr) rs144481204 0.00018
NM_000503.6(EYA1):c.*1275G>A rs192113669 0.00017
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_000503.6(EYA1):c.*1284C>A rs867048052 0.00010
NM_000503.6(EYA1):c.*442G>A rs767388665 0.00010
NM_000503.6(EYA1):c.*1391G>A rs543035675 0.00006
NM_005982.4(SIX1):c.-161G>C rs886050573 0.00006
NM_005982.4(SIX1):c.-185T>C rs745791461 0.00006
NM_000503.6(EYA1):c.299C>A (p.Thr100Asn) rs373501480 0.00005
NM_000503.6(EYA1):c.65G>A (p.Gly22Asp) rs727503049 0.00005
NM_000503.6(EYA1):c.*1229G>A rs769460553 0.00004
NM_000503.6(EYA1):c.*1561A>G rs1042576113 0.00004
NM_000503.6(EYA1):c.*545C>T rs886063086 0.00004
NM_005982.4(SIX1):c.*1251A>G rs746385772 0.00004
NM_005982.4(SIX1):c.681C>A (p.Asp227Glu) rs149265761 0.00004
NM_000503.6(EYA1):c.-188C>T rs1045608759 0.00003
NM_000503.6(EYA1):c.-49A>G rs773963094 0.00003
NM_000503.6(EYA1):c.1318C>T (p.Arg440Trp) rs376931849 0.00003
NM_000503.6(EYA1):c.1426G>A (p.Asp476Asn) rs371408686 0.00003
NM_000503.6(EYA1):c.692A>G (p.Asn231Ser) rs1563422226 0.00003
NM_000503.6(EYA1):c.910C>T (p.Arg304Cys) rs772877702 0.00003
NM_005982.4(SIX1):c.191G>A (p.Arg64His) rs1051653507 0.00003
NM_005982.4(SIX1):c.822C>T (p.Pro274=) rs368353344 0.00003
NM_000503.6(EYA1):c.*1529C>T rs779384590 0.00002
NM_000503.6(EYA1):c.*866C>T rs979538866 0.00002
NM_000503.6(EYA1):c.26C>T (p.Pro9Leu) rs766713665 0.00002
NM_000503.6(EYA1):c.49A>G (p.Ser17Gly) rs747231434 0.00002
NM_005982.4(SIX1):c.*266C>A rs1049363176 0.00002
NM_000503.6(EYA1):c.*1297A>G rs1806462036 0.00001
NM_000503.6(EYA1):c.*1598A>C rs886063084 0.00001
NM_000503.6(EYA1):c.*70G>A rs938004211 0.00001
NM_000503.6(EYA1):c.-24G>T rs759264949 0.00001
NM_000503.6(EYA1):c.-429G>A rs886063094 0.00001
NM_000503.6(EYA1):c.-454G>A rs569684779 0.00001
NM_000503.6(EYA1):c.1509T>C (p.Thr503=) rs371495884 0.00001
NM_000503.6(EYA1):c.196G>T (p.Gly66Cys) rs886063089 0.00001
NM_000503.6(EYA1):c.289A>G (p.Ile97Val) rs1422583050 0.00001
NM_000503.6(EYA1):c.378G>A (p.Thr126=) rs766288763 0.00001
NM_000503.6(EYA1):c.491T>C (p.Leu164Pro) rs1007684729 0.00001
NM_000503.6(EYA1):c.548A>G (p.Gln183Arg) rs794727845 0.00001
NM_000503.6(EYA1):c.556+5G>C rs886063088 0.00001
NM_000503.6(EYA1):c.827-8T>A rs1240727448 0.00001
NM_000503.6(EYA1):c.830A>G (p.Tyr277Cys) rs374772533 0.00001
NM_005982.4(SIX1):c.*161C>A rs886050571 0.00001
NM_005982.4(SIX1):c.*371A>G rs538935374 0.00001
NC_000014.8:g.(?_60976117)_(61191013_?)dup
NC_000014.8:g.(?_60976117)_(61447691_?)del
NM_000503.6(EYA1):c.*1126T>C rs1806487217
NM_000503.6(EYA1):c.*451C>T rs1806581730
NM_000503.6(EYA1):c.*755A>T rs1806536881
NM_000503.6(EYA1):c.-155G>A rs886063090
NM_000503.6(EYA1):c.-192G>A rs886063092
NM_000503.6(EYA1):c.-242T>G rs886063093
NM_000503.6(EYA1):c.-263C>T rs146081509
NM_000503.6(EYA1):c.-326G>T rs551597748
NM_000503.6(EYA1):c.-340G>C rs55997623
NM_000503.6(EYA1):c.-75G>C rs558296770
NM_000503.6(EYA1):c.1186G>A (p.Gly396Arg) rs727503047
NM_000503.6(EYA1):c.1258T>C (p.Leu420=) rs200074362
NM_000503.6(EYA1):c.1313A>T (p.Tyr438Phe) rs1374801818
NM_000503.6(EYA1):c.1698+14G>A rs373281401
NM_000503.6(EYA1):c.203-15G>T rs772006212
NM_000503.6(EYA1):c.235A>G (p.Thr79Ala) rs1554550645
NM_000503.6(EYA1):c.273-3T>C rs2129031680
NM_000503.6(EYA1):c.415T>C (p.Tyr139His) rs763614581
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.115G>T (p.Ala39Ser) rs1431824329
NM_005982.4(SIX1):c.139G>C (p.Glu47Gln)
NM_005982.4(SIX1):c.14C>A (p.Pro5Gln)
NM_005982.4(SIX1):c.175del (p.His59fs)
NM_005982.4(SIX1):c.184A>C (p.Asn62His)
NM_005982.4(SIX1):c.190del (p.Arg64fs)
NM_005982.4(SIX1):c.1A>C (p.Met1Leu) rs1895013419
NM_005982.4(SIX1):c.321C>T (p.Gly107=)
NM_005982.4(SIX1):c.328C>G (p.Arg110Gly) rs80356459
NM_005982.4(SIX1):c.340A>G (p.Lys114Glu)
NM_005982.4(SIX1):c.356G>A (p.Arg119His)
NM_005982.4(SIX1):c.385T>A (p.Tyr129Asn)
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.428A>G (p.Tyr143Cys)
NM_005982.4(SIX1):c.446del (p.Pro149fs)
NM_005982.4(SIX1):c.457G>C (p.Glu153Gln)
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.495C>T (p.Thr165=) rs1181935324
NM_005982.4(SIX1):c.502G>A (p.Val168Ile)
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.583TCC[2] (p.Ser197del)
NM_005982.4(SIX1):c.620A>C (p.Glu207Ala) rs1894944353
NM_005982.4(SIX1):c.644G>T (p.Ser215Ile) rs540778343
NM_005982.4(SIX1):c.689C>T (p.Ser230Leu)
NM_005982.4(SIX1):c.713T>A (p.Met238Lys)
NM_005982.4(SIX1):c.722C>A (p.Ala241Asp)
NM_005982.4(SIX1):c.775G>T (p.Gly259Cys)
NM_005982.4(SIX1):c.811_812del (p.Leu271fs) rs762353418
NM_005982.4(SIX1):c.816dup (p.Gly273fs)
NM_005982.4(SIX1):c.838G>A (p.Val280Met) rs2140239343
NM_005982.4(SIX1):c.847G>A (p.Gly283Arg)

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