ClinVar Miner

List of variants reported as benign for Amyloidosis, hereditary systemic 1

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.337-18G>C rs36204272 0.06198
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458 0.05166
NM_000371.4(TTR):c.*21C>A rs12226 0.02158
NM_000371.3(TTR):c.*345G>A rs58172837 0.01108
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00289
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00166
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 0.00038
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095 0.00032
NM_000371.3(TTR):c.*191C>T rs556327750 0.00023
NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu) rs188323108 0.00006
NM_000371.4(TTR):c.70-7C>T rs587780990 0.00005
NM_000371.4(TTR):c.-743A>T rs3794885
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000371.4(TTR):c.372C>G (p.Arg124=) rs780119793

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