ClinVar Miner

List of variants studied for Amyloidosis, hereditary systemic 1 by Institute of Immunology and Genetics Kaiserslautern

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	rs76992529	0.00475
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)	rs138065384	0.00019
NM_000371.4(TTR):c.148G>A (p.Val50Met)	rs28933979	0.00004
NM_000371.4(TTR):c.250T>C (p.Phe84Leu)	rs121918091

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