ClinVar Miner

List of variants studied for Branchiootorenal Spectrum Disorders

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Total variants: 24
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HGVS dbSNP
NM_000503.5(EYA1):c.*1914T>G rs112480709
NM_000503.6(EYA1):c.*1135_*1138dup rs886063085
NM_000503.6(EYA1):c.*1217_*1219TTA[1] rs574723016
NM_000503.6(EYA1):c.*1372_*1375dup rs142792208
NM_000503.6(EYA1):c.*1561_*1564ATCA[3] rs553875263
NM_000503.6(EYA1):c.*509_*512del rs146202037
NM_000503.6(EYA1):c.*770_*773dup rs371488223
NM_000503.6(EYA1):c.*901dup rs570995924
NM_005982.4(SIX1):c.*1008del rs148821608
NM_005982.4(SIX1):c.*1268_*1269AT[1] rs3832952
NM_005982.4(SIX1):c.*1571T>C rs886050567
NM_005982.4(SIX1):c.*265del rs112733948
NM_005982.4(SIX1):c.*268_*271CAAA[2] rs886050570
NM_005982.4(SIX1):c.*578_*581del rs556041829
NM_005982.4(SIX1):c.*765_*766del rs33943216
NM_005982.4(SIX1):c.*766del rs33943216
NM_005982.4(SIX1):c.*883_*889CTAGTTT[1] rs561797428
NM_005982.4(SIX1):c.-255G>T rs79926530
NM_172059.5(EYA1):c.34-5589A>G rs886063095
NM_172059.5(EYA1):c.34-5644_34-5643del rs886063096
NM_172059.5(EYA1):c.34-5646_34-5645del rs35320129
NM_172059.5(EYA1):c.34-5646_34-5645dup rs35320129
NM_172059.5(EYA1):c.34-5670C>A rs886063099
NM_172059.5(EYA1):c.34-5671C>A rs886063100

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