ClinVar Miner

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

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
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_000371.4(TTR):c.368G>A (p.Arg123His) rs148538950 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_000371.3(TTR):c.*234G>C rs542619281 0.00014
NM_000371.3(TTR):c.-61G>A rs770403822 0.00014
NM_000371.4(TTR):c.*143G>C rs545271394 0.00008
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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