ClinVar Miner

List of variants in gene TTR reported by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458 0.05309
NM_000371.4(TTR):c.*21C>A rs12226 0.02158
NM_000371.3(TTR):c.*261C>T rs62093482 0.01852
NM_000371.3(TTR):c.*345G>A rs58172837 0.01182
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.360C>T (p.Ser120=) rs150127220 0.00128
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382 0.00104
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_000371.3(TTR):c.*191C>T rs556327750 0.00023
NM_000371.4(TTR):c.368G>A (p.Arg123His) rs148538950 0.00019
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095 0.00019
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_000371.3(TTR):c.*304C>T rs541989755 0.00016
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00015
NM_000371.3(TTR):c.*234G>C rs542619281 0.00014
NM_000371.3(TTR):c.-61G>A rs770403822 0.00014
NM_000371.4(TTR):c.354C>T (p.Asn118=) rs11541797 0.00009
NM_000371.4(TTR):c.*143G>C rs545271394 0.00008
NM_000371.4(TTR):c.355G>A (p.Asp119Asn) rs76410435 0.00006
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000371.4(TTR):c.267C>T (p.Tyr89=) rs757950308 0.00003
NM_000371.4(TTR):c.*31G>A rs553309501 0.00001
NM_000371.3(TTR):c.-102G>T rs967658213
NM_000371.4(TTR):c.11_13dup (p.His4dup) rs747545126
NM_000371.4(TTR):c.200+1G>A rs1567945731
NM_000371.4(TTR):c.239C>G (p.Thr80Ser) rs1254341785
NM_000371.4(TTR):c.382G>A (p.Ala128Thr) rs2073528679
NM_000371.4(TTR):c.432_437del (p.Asn144_Pro145del) rs886053745

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