ClinVar Miner

List of variants in gene SLC17A8 reported as benign for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_139319.3(SLC17A8):c.*1295T>C rs139917587
NM_139319.3(SLC17A8):c.*39A>C rs11568537
NM_139319.3(SLC17A8):c.*507G>A rs73376066
NM_139319.3(SLC17A8):c.*71T>C rs75599713
NM_139319.3(SLC17A8):c.*817A>T rs56156523
NM_139319.3(SLC17A8):c.-218T>C rs10860582
NM_139319.3(SLC17A8):c.171G>A (p.Thr57=) rs11110359
NM_139319.3(SLC17A8):c.23C>T (p.Thr8Ile) rs45610843
NM_139319.3(SLC17A8):c.355-4C>A rs11568531
NM_139319.3(SLC17A8):c.54G>A (p.Lys18=) rs11568528
NM_139319.3(SLC17A8):c.711G>A (p.Leu237=) rs11568542
NM_139319.3(SLC17A8):c.723G>A (p.Leu241=) rs11568545
NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=) rs148882860

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