ClinVar Miner

List of variants reported as benign for Usher syndrome by ClinGen Hearing Loss Variant Curation Expert Panel

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.15297+3A>G rs57754754
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579

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