ClinVar Miner

List of variants in gene AMER1 reported as likely benign for Osteopathia striata with cranial sclerosis

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_152424.4(AMER1):c.401A>C (p.His134Pro) rs146489129 0.00149
NM_152424.4(AMER1):c.918G>A (p.Gly306=) rs147299494 0.00094
NM_152424.4(AMER1):c.3408G>A (p.Ter1136=) rs372461050 0.00086
NM_152424.4(AMER1):c.1796A>G (p.Tyr599Cys) rs144896730 0.00043
NM_152424.4(AMER1):c.742C>A (p.Pro248Thr) rs149688443 0.00017

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