ClinVar Miner

List of variants reported for Vitiligo-associated multiple autoimmune disease susceptibility 1; Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome; Autoinflammation with arthritis and dyskeratosis; Respiratory papillomatosis, juvenile recurrent, congenital by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_033004.4(NLRP1):c.316G>A (p.Gly106Arg) rs72827640 0.00324
NM_033004.4(NLRP1):c.923G>A (p.Arg308Gln) rs140628502 0.00122
NM_033004.4(NLRP1):c.272-7C>G rs202080927 0.00036
NM_033004.4(NLRP1):c.439C>T (p.Arg147Cys) rs147371989 0.00015
NM_033004.4(NLRP1):c.1040T>G (p.Val347Gly) rs201743343 0.00009
NM_033004.4(NLRP1):c.164C>T (p.Ser55Leu) rs201750573 0.00009
NM_033004.4(NLRP1):c.3228C>T (p.Asp1076=) rs139890811 0.00004
NM_033004.4(NLRP1):c.3338C>T (p.Thr1113Met) rs761505501 0.00004

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