List of variants in gene EPS8L2 studied for auditory system disorder

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_022772.4(EPS8L2):c.100+72T>C	rs11605783	0.63378
NM_022772.4(EPS8L2):c.301C>T (p.Leu101=)	rs3087546	0.55660
NM_022772.4(EPS8L2):c.774C>T (p.Ile258=)	rs7635	0.37863
NM_022772.4(EPS8L2):c.1584G>C (p.Trp528Cys)	rs184903112	0.00137
NM_022772.4(EPS8L2):c.206C>T (p.Thr69Met)	rs1481107650	0.00001
NM_022772.4(EPS8L2):c.1014del (p.Ser339fs)	rs1554952443
NM_022772.4(EPS8L2):c.1430dup (p.Val478fs)	rs758700198
NM_022772.4(EPS8L2):c.148_149insGGACA (p.Ser50fs)	rs2133499883
NM_022772.4(EPS8L2):c.163C>T (p.Gln55Ter)
NM_022772.4(EPS8L2):c.165+72G>A	rs7395822
NM_022772.4(EPS8L2):c.738del (p.Val247fs)	rs1554952193
NM_022772.4(EPS8L2):c.779A>G (p.Asn260Ser)	rs940188070

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