ClinVar Miner

List of variants studied for Familial cold autoinflammatory syndrome 2 by Baylor Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_144687.4(NLRP12):c.1854C>G (p.Tyr618Ter) rs142487599 0.00013
NM_144687.4(NLRP12):c.1330C>G (p.Gln444Glu) rs371528857 0.00002
NM_144687.4(NLRP12):c.3174C>A (p.Asp1058Glu) rs1690166860 0.00001
NM_144687.4(NLRP12):c.644T>C (p.Met215Thr) rs768852576 0.00001
NM_144687.4(NLRP12):c.1328T>C (p.Met443Thr)
NM_144687.4(NLRP12):c.1394C>T (p.Ala465Val) rs960826983
NM_144687.4(NLRP12):c.882C>G (p.Asp294Glu) rs147080557

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