ClinVar Miner

List of variants in gene OSBPL2 studied for autosomal dominant nonsyndromic hearing loss 67

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_144498.4(OSBPL2):c.37+23G>A rs6089706 0.85800
NM_144498.4(OSBPL2):c.1125+15A>G rs2297592 0.44193
NM_144498.4(OSBPL2):c.1249+4C>T rs3746657 0.41122
NM_144498.4(OSBPL2):c.394-17C>T rs2236526 0.37206
NM_144498.4(OSBPL2):c.141_142del (p.Arg50fs) rs786205881
NM_144498.4(OSBPL2):c.156_157del (p.Gln53fs) rs786205880
NM_144498.4(OSBPL2):c.158_159del (p.Gln53fs) rs1981200603
NM_144498.4(OSBPL2):c.180_181del (p.His60fs) rs1981202197
NM_144498.4(OSBPL2):c.572A>G (p.Asn191Ser) rs1385022544
NM_144498.4(OSBPL2):c.888_890delinsATG (p.Phe296_Met297delinsLeuTrp) rs2145970580

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