ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive nonsyndromic hearing loss 25 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001080476.3(GRXCR1):c.785G>A (p.Arg262Gln) rs146696590 0.00067
NM_001080476.3(GRXCR1):c.*65A>G rs531527331 0.00045
NM_001080476.3(GRXCR1):c.*89G>A rs564643132 0.00034
NM_001080476.3(GRXCR1):c.331T>C (p.Tyr111His) rs201002003 0.00016
NM_001080476.3(GRXCR1):c.439C>T (p.Arg147Cys) rs569193097 0.00009
NM_001080476.3(GRXCR1):c.284G>C (p.Arg95Thr) rs775363257 0.00004
NM_001080476.3(GRXCR1):c.325G>A (p.Val109Ile) rs760182093 0.00004
NM_001080476.3(GRXCR1):c.49C>T (p.Arg17Trp) rs762049276 0.00004
NM_001080476.3(GRXCR1):c.*69T>A rs796495255 0.00003
NM_001080476.3(GRXCR1):c.236G>A (p.Ser79Asn) rs886059416 0.00003
NM_001080476.3(GRXCR1):c.289G>A (p.Val97Ile) rs186041671 0.00003
NM_001080476.3(GRXCR1):c.551A>T (p.Glu184Val) rs886059417 0.00003
NM_001080476.3(GRXCR1):c.*6G>T rs1344018880 0.00001
NM_001080476.3(GRXCR1):c.358T>C (p.Phe120Leu) rs529420082 0.00001
NM_001080476.3(GRXCR1):c.385-7C>T rs748066741
NM_001080476.3(GRXCR1):c.604T>C (p.Phe202Leu) rs886059418
NM_001080476.3(GRXCR1):c.745C>G (p.Pro249Ala) rs886059419
NM_001080476.3(GRXCR1):c.858G>T (p.Lys286Asn) rs886059420

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