List of variants in gene EYA1 reported by CeGaT Center for Human Genetics Tuebingen

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000503.6(EYA1):c.840C>A (p.Ile280=)	rs55972891	0.00286
NM_000503.6(EYA1):c.*429T>C	rs192602787	0.00165
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu)	rs139717960	0.00069
NM_000503.6(EYA1):c.1699-8T>C	rs201537030	0.00048
NM_000503.6(EYA1):c.887G>A (p.Arg296His)	rs181191349	0.00014
NM_000503.6(EYA1):c.630T>C (p.Ser210=)	rs373102227	0.00003
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_000503.6(EYA1):c.491T>C (p.Leu164Pro)	rs1007684729	0.00001
NM_000503.6(EYA1):c.640-4G>C	rs757754363	0.00001
NM_000503.6(EYA1):c.-340G>T	rs55997623
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter)	rs121909202
NM_000503.6(EYA1):c.1381_1387dup (p.Ala463fs)	rs2128851100
NM_000503.6(EYA1):c.1537C>A (p.Leu513Met)	rs1809062554
NM_000503.6(EYA1):c.317T>C (p.Met106Thr)	rs2129031597
NM_001370334.1(EYA1):c.-135A>C

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