ClinVar Miner

List of variants studied for branchiootic syndrome by OMIM

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) rs121909202
NM_000503.6(EYA1):c.1501_1507del (p.Thr501fs) rs606231356
NM_000503.6(EYA1):c.398_405del (p.Pro133fs)
NM_000503.6(EYA1):c.972_973dup (p.Phe325fs)
NM_005982.4(SIX1):c.328C>T (p.Arg110Trp) rs80356459
NM_005982.4(SIX1):c.364T>A (p.Trp122Arg) rs121909770
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) rs104894478

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