ClinVar Miner

List of variants reported as pathogenic for auditory system disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_000166.6(GJB1):c.-17G>A rs879254047
NM_000166.6(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_005422.2(TECTA):c.5597C>T (p.Thr1866Met) rs140236996
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp) rs28937595
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456
NM_018344.6(SLC29A3):c.1279G>A (p.Gly427Ser) rs121912583
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354
NM_024022.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_194248.2(OTOF):c.5098G>C rs199766465

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