List of variants studied for Amyloidosis, hereditary systemic 1 by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

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Total variants: 15

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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.360C>T (p.Ser120=)	rs150127220	0.00128
NM_000371.4(TTR):c.417G>A (p.Thr139=)	rs2276382	0.00104
NM_000371.4(TTR):c.14G>A (p.Arg5His)	rs138657343	0.00017
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)	rs121918085	0.00004
NM_000371.4(TTR):c.70-9T>C	rs764059061	0.00003
NM_000371.4(TTR):c.118G>A (p.Val40Ile)	rs121918093	0.00001
NM_000371.4(TTR):c.185A>C (p.Glu62Ala)	rs11541796
NM_000371.4(TTR):c.232C>G (p.Leu78Val)
NM_000371.4(TTR):c.239C>G (p.Thr80Ser)	rs1254341785
NM_000371.4(TTR):c.259G>C (p.Gly87Arg)	rs11541799
NM_000371.4(TTR):c.265T>C (p.Tyr89His)	rs121918100
NM_000371.4(TTR):c.272T>C (p.Val91Ala)	rs121918084
NM_000371.4(TTR):c.325G>C (p.Glu109Gln)	rs121918082
NM_000371.4(TTR):c.337-14_337-11del	rs112263266

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