ClinVar Miner

List of variants reported as pathogenic for perceptual disorders by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu) rs755694066 0.00002
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_138691.3(TMC1):c.352G>T (p.Glu118Ter) rs1439351996 0.00001
NM_206933.4(USH2A):c.2168-1G>C rs748961218 0.00001
NM_000292.3(PHKA2):c.3295_3296dup (p.Ile1100fs) rs2147807115
NM_000330.4(RS1):c.637C>T (p.Arg213Trp) rs281865365
NM_000441.2(SLC26A4):c.1262A>T (p.Gln421Leu) rs201660407
NM_001034853.2(RPGR):c.919del (p.Thr307fs) rs1601951595
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004044.7(ATIC):c.1654A>T (p.Lys552Ter) rs1389373911
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_020982.4(CLDN9):c.370_372dup (p.Ile124dup) rs773682747
NM_153700.2(STRC):c.4796_4800del (p.Cys1599fs) rs727503442

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