ClinVar Miner

List of variants reported as pathogenic by The Shared Resource Centre "Genome", Research Centre for Medical Genetics

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00013
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter) rs774312182 0.00011
NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter) rs377480477 0.00011
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00005
NM_016239.4(MYO15A):c.6046+1G>A rs201978571 0.00005
NM_194248.3(OTOF):c.4799+1G>A rs200147906 0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_005422.4(TECTA):c.1756C>T (p.Arg586Ter) rs764994708 0.00002
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 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_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter) rs767078782 0.00001
NC_000001.11:g.(?_216270461)_(216260162_?)del
NC_000015.10:g.(?_43890333)_(43893072_?)del
NC_000015.10:g.(?_43890333)_(43897714_?)del
NC_000015.10:g.(?_43890333)_(43940887_?)del
NC_000016.10:g.(?_21624041)_(21730798_?)del
NM_000260.4(MYO7A):c.2557C>T (p.Arg853Cys) rs2135473615
NM_000307.5(POU3F4):c.916C>T (p.Gln306Ter) rs2520216752
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.317C>A (p.Ala106Asp) rs1562822565
NM_001003699.4(RREB1):c.2677del (p.Ala893fs) rs2533134194
NM_001145026.2(PTPRQ):c.2726del (p.Glu909fs) rs2541594859
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_004593.3(TRA2B):c.170+1G>A rs2473753535
NM_138691.3(TMC1):c.1250G>A (p.Gly417Glu) rs2489925983
NM_153700.2(STRC):c.2171_2174del (p.Val724fs) rs786200883
NM_194248.3(OTOF):c.3192C>G (p.Tyr1064Ter) rs766819324
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs) rs398124618
NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter) rs1571929573

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