List of variants in gene EYA1 studied for Rare genetic deafness

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000503.6(EYA1):c.1090G>T (p.Glu364Ter)	rs876657689
NM_000503.6(EYA1):c.1122del (p.Leu374fs)	rs397517916
NM_000503.6(EYA1):c.1195dup (p.Leu399fs)	rs1585820240
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln)	rs121909196
NM_000503.6(EYA1):c.1361-1G>T	rs397517917
NM_000503.6(EYA1):c.1475+1G>C	rs727503042
NM_000503.6(EYA1):c.1579T>A (p.Tyr527Asn)	rs397517918
NM_000503.6(EYA1):c.1697_1698insT (p.Lys566fs)	rs397517919
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)	rs397517920
NM_000503.6(EYA1):c.241C>T (p.Gln81Ter)	rs1554550637
NM_000503.6(EYA1):c.396_406del (p.Gln132fs)	rs876657690
NM_000503.6(EYA1):c.428G>A (p.Trp143Ter)	rs727504494
NM_000503.6(EYA1):c.896C>A (p.Ser299Ter)	rs876657691
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter)	rs121909195
NM_172058.2(EYA1):c.(?_1598-56)_(*1968_?)del

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