List of variants in gene TTR reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 20

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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.416C>T (p.Thr139Met)	rs28933981	0.00177
NM_000371.4(TTR):c.328C>A (p.His110Asn)	rs121918074	0.00040
NM_000371.4(TTR):c.14G>A (p.Arg5His)	rs138657343	0.00017
NM_000371.4(TTR):c.354C>T (p.Asn118=)	rs11541797	0.00009
NM_000371.4(TTR):c.280G>C (p.Asp94His)	rs730881164	0.00007
NM_000371.4(TTR):c.148G>A (p.Val50Met)	rs28933979	0.00004
NM_000371.4(TTR):c.375C>T (p.Tyr125=)	rs749079577	0.00004
NM_000371.4(TTR):c.209G>A (p.Ser70Asn)	rs121918080	0.00002
NM_000371.4(TTR):c.118G>A (p.Val40Ile)	rs121918093	0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg)	rs121918083	0.00001
NC_000018.10:g.31591133G>T
NM_000371.4(TTR):c.*9TCC[1]	rs766223850
NM_000371.4(TTR):c.233T>A (p.Leu78His)	rs121918069
NM_000371.4(TTR):c.250T>C (p.Phe84Leu)	rs121918091
NM_000371.4(TTR):c.271del (p.Val91fs)	rs1555631411
NM_000371.4(TTR):c.310A>C (p.Ile104Leu)	rs781345808
NM_000371.4(TTR):c.325G>C (p.Glu109Gln)	rs121918082
NM_000371.4(TTR):c.379A>G (p.Ile127Val)	rs121918089
NM_000371.4(TTR):c.69+2T>C	rs2144405413

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