ClinVar Miner

List of variants studied for Amyloidosis, hereditary systemic 1 by GenomeConnect - Invitae Patient Insights Network

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	rs76992529	0.00501
NM_000371.4(TTR):c.148G>A (p.Val50Met)	rs28933979	0.00004
NM_000371.4(TTR):c.244G>A (p.Glu82Lys)	rs1555631402

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