ClinVar Miner

List of variants studied for Tubulointerstitial kidney disease, autosomal dominant, 2 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001204285.2(MUC1):c.1354-1G>A
NM_001204285.2(MUC1):c.184del (p.Ser62fs)
NM_002456.6(MUC1):c.717del (p.Ser240fs)

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