List of variants in gene EPS8 studied for perceptual disorders

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_004447.6(EPS8):c.104A>G (p.His35Arg)	rs71532816	0.00631
NM_004447.6(EPS8):c.1653G>A (p.Ser551=)	rs75362705	0.00284
NM_004447.6(EPS8):c.197G>A (p.Arg66His)	rs77383735	0.00051
NM_004447.6(EPS8):c.2177C>T (p.Thr726Ile)	rs150904526	0.00041
NM_004447.6(EPS8):c.871G>T (p.Ala291Ser)	rs202097537	0.00007
NM_004447.6(EPS8):c.205-8A>G	rs180899529	0.00002
NM_004447.6(EPS8):c.2104C>T (p.Arg702Trp)	rs201426875	0.00001
NM_004447.6(EPS8):c.449C>T (p.Ala150Val)	rs769820275	0.00001
GRCh37/hg19 12p12.3(chr12:15800060-15865927)
NM_004447.6(EPS8):c.1048C>T (p.Gln350Ter)
NM_004447.6(EPS8):c.1424T>G (p.Leu475Ter)	rs2135785787
NM_004447.6(EPS8):c.1435-2A>T	rs1945336251
NM_004447.6(EPS8):c.1490T>A (p.Ile497Asn)
NM_004447.6(EPS8):c.517-1G>T
NM_004447.6(EPS8):c.600-1G>A
NM_004447.6(EPS8):c.676C>T (p.Gln226Ter)
NM_004447.6(EPS8):c.694C>T (p.Arg232Ter)
NM_004447.6(EPS8):c.811-1G>A
NM_004447.6(EPS8):c.88C>T (p.Gln30Ter)	rs587777691

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