ClinVar Miner

List of variants studied for autosomal recessive nonsyndromic hearing loss 4 by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00065
NM_000441.2(SLC26A4):c.1803+1G>T
NM_000441.2(SLC26A4):c.87G>T (p.Glu29Asp) rs1554352240

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