ClinVar Miner

List of variants reported as benign for autosomal dominant nonsyndromic hearing loss 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.*1041G>A rs6892185 0.17917
NM_005219.5(DIAPH1):c.*933T>A rs55798800 0.13233
NM_005219.5(DIAPH1):c.117+14C>T rs2074913 0.05773
NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=) rs34296458 0.03749
NM_005219.5(DIAPH1):c.*1347C>G rs251020 0.03434
NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=) rs2302102 0.02275
NM_005219.5(DIAPH1):c.*618G>C rs144081334 0.01207
NM_005219.5(DIAPH1):c.*1304A>G rs112580910 0.01163
NM_005219.5(DIAPH1):c.*1364T>C rs116342492 0.01140
NM_005219.5(DIAPH1):c.3765G>A (p.Glu1255=) rs35755269 0.00955
NM_005219.5(DIAPH1):c.*1597G>A rs76801798 0.00643
NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys) rs143763573 0.00356
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=) rs75860159 0.00222
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) rs142480526 0.00018
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg) rs367669306 0.00013
NM_005219.5(DIAPH1):c.*1607C>T rs527786719 0.00001
NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro) rs200220260 0.00001

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