List of variants in gene SYNE4 reported as likely pathogenic for autosomal recessive nonsyndromic hearing loss 76

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter)	rs200484521	0.00066
NM_001039876.3(SYNE4):c.559C>T (p.Arg187Ter)	rs750797779	0.00004
NM_001039876.3(SYNE4):c.442C>T (p.Arg148Ter)	rs754343113	0.00003
NM_001039876.3(SYNE4):c.618+2T>A	rs748326281	0.00003
NM_001039876.3(SYNE4):c.662_666del (p.Glu221fs)	rs772404105	0.00001
NM_001039876.3(SYNE4):c.972+1G>A	rs2145346614	0.00001
NM_001039876.3(SYNE4):c.121_122dup (p.Ser41fs)	rs758800042
NM_001039876.3(SYNE4):c.128+1G>A
NM_001039876.3(SYNE4):c.136C>T (p.Gln46Ter)
NM_001039876.3(SYNE4):c.253_259dup (p.Ala87fs)	rs776772746
NM_001039876.3(SYNE4):c.377del (p.Gly126fs)	rs2514041516
NM_001039876.3(SYNE4):c.430C>T (p.Gln144Ter)
NM_001039876.3(SYNE4):c.653T>A (p.Leu218Ter)	rs2514038071
NM_001039876.3(SYNE4):c.742dup (p.Glu248fs)
NM_001039876.3(SYNE4):c.96dup (p.Val33fs)	rs2514051953
NM_001039876.3(SYNE4):c.972+2T>G

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