ClinVar Miner

List of variants reported as pathogenic for autosomal recessive disease by Hereditary Hearing Loss Research Unit, University of Madras

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser) rs202190573 0.00010
NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs) rs1554358720
NM_001042517.2(DIAPH3):c.2059del (p.Cys687fs) rs2050261564
NM_001145026.2(PTPRQ):c.4006C>T (p.Gln1336Ter) rs1896318374
NM_016239.4(MYO15A):c.5673C>G (p.Tyr1891Ter) rs2046392476

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