List of variants in gene EYA1 reported as likely pathogenic for not provided

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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: 19

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HGVS	dbSNP	gnomAD frequency
NM_000503.6(EYA1):c.1483T>A (p.Cys495Ser)	rs1563630587	0.00001
NM_000503.6(EYA1):c.229C>T (p.Arg77Ter)	rs200164773	0.00001
GRCh37/hg19 8q13.3(chr8:71816154-72197709)x1
NM_000503.6(EYA1):c.1051-5T>G	rs2128904621
NM_000503.6(EYA1):c.1051G>T (p.Asp351Tyr)	rs2128904607
NM_000503.6(EYA1):c.1189C>T (p.Gln397Ter)	rs2128854635
NM_000503.6(EYA1):c.1381_1387dup (p.Ala463fs)	rs2128851100
NM_000503.6(EYA1):c.1433G>A (p.Trp478Ter)	rs1475718221
NM_000503.6(EYA1):c.1475G>A (p.Arg492Gln)	rs2128850745
NM_000503.6(EYA1):c.1537C>A (p.Leu513Met)	rs1809062554
NM_000503.6(EYA1):c.1570G>T (p.Glu524Ter)
NM_000503.6(EYA1):c.1714dup (p.Trp572fs)	rs1064795739
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)	rs397517920
NM_000503.6(EYA1):c.202+1G>A	rs753245290
NM_000503.6(EYA1):c.202_203insTTAC (p.Ala68fs)
NM_000503.6(EYA1):c.640-15_698del	rs1554541834
NM_000503.6(EYA1):c.640G>A (p.Asp214Asn)	rs1563422500
NM_000503.6(EYA1):c.682_686dup (p.Tyr230fs)	rs2128999992
NM_000503.6(EYA1):c.966+5G>C	rs606231357

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