ClinVar Miner

List of variants reported as pathogenic for autosomal recessive nonsyndromic hearing loss 63 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001145308.5(LRTOMT):c.328G>A (p.Glu110Lys) rs137853187 0.00004
NM_001145308.5(LRTOMT):c.358+4A>C rs545947177 0.00002
NM_001145308.5(LRTOMT):c.242G>A (p.Arg81Gln) rs137853185 0.00001
NM_001145308.5(LRTOMT):c.313T>C (p.Trp105Arg) rs137853186
NM_001145308.5(LRTOMT):c.333C>G (p.Tyr111Ter) rs137853188

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