ClinVar Miner

List of variants reported as benign for auditory system disease by ClinGen Hearing Loss Variant Curation Expert Panel

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_000260.3(MYO7A):c.3503+12_3503+33delGAGGCGGGGACACCAGGGCCTG rs111033223
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481
NM_000441.2(SLC26A4):c.1708-18T>A rs55701254
NM_000441.2(SLC26A4):c.416-7T>C rs111033387
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser) rs35045430
NM_004086.3(COCH):c.429A>G (p.Pro143=) rs147841606
NM_004086.3(COCH):c.629+5C>T rs202109231
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590
NM_005422.2(TECTA):c.1111A>G (p.Arg371Gly) rs612969
NM_005422.2(TECTA):c.1436C>T (p.Pro479Leu) rs35107075
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314
NM_022124.6(CDH23):c.429+4G>A rs397517328
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.7334C>T (p.Ser2445Phe) rs41315579

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