ClinVar Miner

List of variants studied for Hearing loss, autosomal recessive 120

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001386125.1(OBSCN):c.24822C>A (p.Tyr8274Ter) rs749025131 0.00001
NM_001257308.2(MINAR2):c.144G>A (p.Trp48Ter) rs2479687611
NM_001257308.2(MINAR2):c.393G>T (p.Lys131Asn) rs2149546596
NM_001257308.2(MINAR2):c.412_419del (p.Arg138fs) rs2479708257

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