ClinVar Miner

List of variants studied for Alopecia universalis congenita by Genome-Nilou Lab

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005144.5(HR):c.1305T>C (p.Phe435=) rs12675745 0.63572
NM_005144.5(HR):c.3379-29G>T rs6557829 0.35485
NM_005144.5(HR):c.1010G>A (p.Gly337Asp) rs12675375 0.28718

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