ClinVar Miner

List of variants studied for Autosomal recessive osteopetrosis 2 by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003701.4(TNFSF11):c.532+4_532+8del rs2137905441
NM_003701.4(TNFSF11):c.596T>A (p.Met199Lys) rs121909072
NM_003701.4(TNFSF11):c.828_829del (p.Val277fs) rs863223288

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