List of variants in gene TTR reported as likely pathogenic for not provided

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
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.262A>T (p.Ile88Leu)	rs121918085	0.00004
NM_000371.4(TTR):c.130C>T (p.Pro44Ser)	rs11541790	0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)	rs121918070	0.00001
NM_000371.4(TTR):c.239C>T (p.Thr80Ile)	rs1254341785	0.00001
NM_000371.4(TTR):c.293A>T (p.Tyr98Phe)	rs958191819	0.00001
NM_000371.4(TTR):c.349G>T (p.Ala117Ser)	rs267607161	0.00001
NM_000371.4(TTR):c.128G>A (p.Ser43Asn)	rs1598844112
NM_000371.4(TTR):c.165G>T (p.Lys55Asn)	rs1567945684
NM_000371.4(TTR):c.193G>A (p.Ala65Thr)	rs121918078
NM_000371.4(TTR):c.220_221inv (p.Glu74Ser)
NM_000371.4(TTR):c.221A>G (p.Glu74Gly)	rs1598845097
NM_000371.4(TTR):c.236C>A (p.Thr79Lys)	rs730881163
NM_000371.4(TTR):c.265T>C (p.Tyr89His)	rs121918100
NM_000371.4(TTR):c.325G>A (p.Glu109Lys)	rs121918082
NM_000371.4(TTR):c.379A>G (p.Ile127Val)	rs121918089
NM_000371.4(TTR):c.407A>C (p.Tyr136Ser)	rs730881167

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