ClinVar Miner

List of variants studied for Hypotrichosis 8 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1695+30914_1695+30917dup rs558917628
NM_001162498.3(LPAR6):c.255del (p.Asp86fs)
NM_001162498.3(LPAR6):c.924del (p.Val309fs) rs2542254523

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