ClinVar Miner

List of variants reported as benign for autosomal dominant nonsyndromic hearing loss 25 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_139319.3(SLC17A8):c.*39A>C rs11568537 0.45975
NM_139319.3(SLC17A8):c.-218T>C rs10860582 0.18033
NM_139319.3(SLC17A8):c.*71T>C rs75599713 0.05167
NM_139319.3(SLC17A8):c.*817A>T rs56156523 0.02065
NM_139319.3(SLC17A8):c.711G>A (p.Leu237=) rs11568542 0.01720
NM_139319.3(SLC17A8):c.54G>A (p.Lys18=) rs11568528 0.00987
NM_139319.3(SLC17A8):c.355-4C>A rs11568531 0.00670
NM_139319.3(SLC17A8):c.23C>T (p.Thr8Ile) rs45610843 0.00512
NM_139319.3(SLC17A8):c.171G>A (p.Thr57=) rs11110359 0.00452
NM_139319.3(SLC17A8):c.*1295T>C rs139917587 0.00355
NM_139319.3(SLC17A8):c.*507G>A rs73376066 0.00337
NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=) rs148882860 0.00261
NM_139319.3(SLC17A8):c.723G>A (p.Leu241=) rs11568545 0.00019

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