ClinVar Miner

List of variants reported as pathogenic for perceptual disorders by Center of Genomic medicine, Geneva, University Hospital of Geneva

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335 0.00019
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_001199799.2(ILDR1):c.942C>A (p.Cys314Ter) rs752714222 0.00006
NM_001384474.1(LOXHD1):c.3061+1G>A rs537227442 0.00006
NM_016239.4(MYO15A):c.6046+1G>A rs201978571 0.00005
NM_005548.3(KARS1):c.433T>C (p.Tyr145His) rs397514745 0.00003
NM_001256317.3(TMPRSS3):c.646C>T (p.Arg216Cys) rs145913750 0.00002
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113 0.00001
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter) rs398124354 0.00001
NM_153700.2(STRC):c.4837G>T (p.Glu1613Ter) rs769443188 0.00001
NC_000015.10:g.43600609_43600610delinsAG rs727503441
NC_000015.9:g.(43851199_43890333)_(43897676_43924279)del
NC_000015.9:g.(43851199_43890391)_(?_44038820)del
NC_000016.9:g.(?_21623965)_(21730823_21968737)del
NM_000260.4(MYO7A):c.565_566del (p.Val189fs) rs1060499651
NM_000350.3(ABCA4):c.1621_1622del (p.Leu541fs) rs1553192715
NM_001038603.3(MARVELD2):c.1331+2T>C rs772048719
NM_001039141.3(TRIOBP):c.3214dup (p.Arg1072fs) rs1485334519
NM_001256317.3(TMPRSS3):c.400A>T (p.Lys134Ter) rs2052672053
NM_001256317.3(TMPRSS3):c.749del (p.Leu250fs) rs2146436212
NM_001614.5(ACTG1):c.830C>T (p.Thr277Ile) rs2143775764
NM_001854.4(COL11A1):c.4519-2del rs2100852418
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910
NM_002700.3(POU4F3):c.502del (p.Ala168fs) rs766631025
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004086.3(COCH):c.341T>C (p.Leu114Pro) rs2138844314
NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser) rs104894478

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