ClinVar Miner

List of variants studied for Autosomal recessive osteopetrosis 8 by Fulgent Genetics, Fulgent Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_013322.3(SNX10):c.212+4A>T rs183941048 0.00044
NM_013322.3(SNX10):c.398G>A (p.Cys133Tyr)
NM_013322.3(SNX10):c.86dup (p.Tyr29Ter)

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