ClinVar Miner

List of variants reported as likely pathogenic for auditory system disease by Laboratory of Prof. Karen Avraham,Tel Aviv University

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_001354587.1(ANKRD36):c.2479-1G>A
NM_001354587.1(ANKRD36):c.2589T>G (p.Ser863Arg)
NM_006012.4(CLPP):c.173T>G (p.Leu58Arg) rs980193170
NM_006012.4(CLPP):c.233G>C (p.Arg78Pro) rs1599193093
NM_016239.4(MYO15A):c.707A>G (p.Tyr236Cys)
NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg) rs550153707
NM_080680.3(COL11A2):c.968dup (p.Ala324fs) rs1583366400

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