List of variants in gene EYA1 reported as likely benign for Otofaciocervical syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000503.5(EYA1):c.*1914T>G	rs112480709	0.00323
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu)	rs139717960	0.00069
NM_000503.6(EYA1):c.557-12A>G	rs373445545	0.00013
NM_000503.6(EYA1):c.325T>C (p.Tyr109His)	rs141779040	0.00011
NM_000503.6(EYA1):c.299C>A (p.Thr100Asn)	rs373501480	0.00005
NM_000503.6(EYA1):c.630T>C (p.Ser210=)	rs373102227	0.00003
NM_000503.6(EYA1):c.743C>T (p.Thr248Met)	rs186736708	0.00003
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser)	rs121909199	0.00001
NM_000503.6(EYA1):c.230G>A (p.Arg77Gln)	rs770356158	0.00001
NM_000503.6(EYA1):c.*1217TTA[1]	rs574723016
NM_000503.6(EYA1):c.*1561ATCA[3]	rs553875263
NM_000503.6(EYA1):c.1475+15G>T	rs373917012
NM_000503.6(EYA1):c.1701C>A (p.His567Gln)	rs763080811

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