ClinVar Miner

List of variants studied for Hyperostosis cranialis interna by Genome-Nilou Lab

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001128431.4(SLC39A14):c.195A>G (p.Leu65=) rs2293144 0.58869
NM_001128431.4(SLC39A14):c.98T>C (p.Leu33Pro) rs896378 0.56499
NM_001128431.4(SLC39A14):c.457+45G>T rs3817445 0.43048
NM_001128431.4(SLC39A14):c.1333-25G>A rs10101909 0.26917

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