ClinVar Miner

List of variants reported as likely 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: 19
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HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.*217C>T rs55934506 0.00382
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp) rs200735096 0.00207
NM_005219.5(DIAPH1):c.*1322C>G rs530260919 0.00165
NM_005219.5(DIAPH1):c.*1637G>C rs531768148 0.00164
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) rs182139018 0.00147
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129 0.00123
NM_005219.5(DIAPH1):c.*16C>T rs202086273 0.00096
NM_005219.5(DIAPH1):c.*1557C>T rs566532178 0.00090
NM_005219.5(DIAPH1):c.*734C>T rs557696634 0.00061
NM_005219.5(DIAPH1):c.2011G>A (p.Gly671Arg) rs766804741 0.00048
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser) rs186370335 0.00030
NM_005219.5(DIAPH1):c.*709C>T rs186922755 0.00026
NM_005219.5(DIAPH1):c.-28G>C rs573787753 0.00013
NM_005219.5(DIAPH1):c.-49A>C rs570498572 0.00006
NM_005219.5(DIAPH1):c.*755T>C rs561468918 0.00004
NM_005219.5(DIAPH1):c.*325G>C rs558843739 0.00001
NM_005219.5(DIAPH1):c.*224G>A rs182541836
NM_005219.5(DIAPH1):c.1523A>G (p.Asp508Gly) rs373413837
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247

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