ClinVar Miner

List of variants studied for Acromelic frontonasal dysostosis

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Total variants: 4
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HGVS dbSNP
NM_020928.2(ZSWIM6):c.151GCG[7] (p.Ala56dup)
NM_020928.2(ZSWIM6):c.1906G>A (p.Val636Met) rs140760439
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020928.2(ZSWIM6):c.440_454del (p.Ala147_Gly151del) rs772099709

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