List of variants in gene TMPRSS3 reported as pathogenic for autosomal recessive nonsyndromic hearing loss 8

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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: 25

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HGVS	dbSNP	gnomAD frequency
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)	rs147231991	0.00146
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)	rs56264519	0.00105
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr)	rs181949335	0.00019
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp)	rs201632198	0.00010
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met)	rs200090033	0.00004
NM_001256317.3(TMPRSS3):c.647G>T (p.Arg216Leu)	rs137853000	0.00003
NM_001256317.3(TMPRSS3):c.646C>T (p.Arg216Cys)	rs145913750	0.00002
NM_001256317.3(TMPRSS3):c.1208C>T (p.Pro403Leu)	rs28939084	0.00001
NM_001256317.3(TMPRSS3):c.310G>A (p.Glu104Lys)	rs373058706	0.00001
NM_001256317.3(TMPRSS3):c.46C>T (p.Arg16Ter)	rs976363536	0.00001
NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs)	rs397517376	0.00001
NM_001256317.3(TMPRSS3):c.1048+1G>A	rs1429442821
NM_001256317.3(TMPRSS3):c.1192-1G>C	rs1601514990
NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg)	rs773780151
NM_001256317.3(TMPRSS3):c.147dup (p.Pro50fs)	rs2146452391
NM_001256317.3(TMPRSS3):c.208del (p.His70fs)	rs727503493
NM_001256317.3(TMPRSS3):c.308A>G (p.Asp103Gly)	rs387906915
NM_001256317.3(TMPRSS3):c.323-6G>A	rs374793617
NM_001256317.3(TMPRSS3):c.400A>T (p.Lys134Ter)	rs2052672053
NM_001256317.3(TMPRSS3):c.582T>A (p.Cys194Ter)	rs1060499811
NM_001256317.3(TMPRSS3):c.749del (p.Leu250fs)	rs2146436212
NM_001256317.3(TMPRSS3):c.753G>C (p.Trp251Cys)	rs137852999
NM_001256317.3(TMPRSS3):c.783-1G>T	rs1237955948
NM_001256317.3(TMPRSS3):c.999del (p.Asp334fs)
NM_024022.4:c.1180_1187delinsN1234

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