ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive nonsyndromic hearing loss 4 by Precision Medicine Center, Zhengzhou University

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000441.2(SLC26A4):c.1656T>G (p.Ser552Arg) rs2129317902
NM_000441.2(SLC26A4):c.2162C>A (p.Thr721Lys) rs121908363
NM_000441.2(SLC26A4):c.87G>C (p.Glu29Asp) rs1554352240

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