ClinVar Miner

List of variants studied for ATTRV122I amyloidosis by OMIM

Included ClinVar conditions (2):
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Total variants: 39
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HGVS dbSNP
NM_000371.3(TTR):c.118G>A (p.Val40Ile) rs121918093
NM_000371.3(TTR):c.133G>A (p.Ala45Thr) rs104894664
NM_000371.3(TTR):c.148G>A (p.Val50Met) rs28933979
NM_000371.3(TTR):c.148G>C (p.Val50Leu) rs28933979
NM_000371.3(TTR):c.149T>C (p.Val50Ala) rs79977247
NM_000371.3(TTR):c.157T>A (p.Phe53Ile) rs121918068
NM_000371.3(TTR):c.157T>C (p.Phe53Leu) rs121918068
NM_000371.3(TTR):c.166G>C (p.Ala56Pro) rs121918077
NM_000371.3(TTR):c.185A>G (p.Glu62Gly) rs11541796
NM_000371.3(TTR):c.191T>C (p.Phe64Ser) rs104894665
NM_000371.3(TTR):c.199G>A (p.Gly67Arg) rs387906523
NM_000371.3(TTR):c.199G>C (p.Gly67Arg) rs387906523
NM_000371.3(TTR):c.200G>C (p.Gly67Ala) rs121918090
NM_000371.3(TTR):c.205A>G (p.Thr69Ala) rs121918081
NM_000371.3(TTR):c.209G>T (p.Ser70Ile) rs121918080
NM_000371.3(TTR):c.210T>G (p.Ser70Arg) rs121918076
NM_000371.3(TTR):c.224T>C (p.Leu75Pro) rs121918079
NM_000371.3(TTR):c.233T>A (p.Leu78His) rs121918069
NM_000371.3(TTR):c.233T>G (p.Leu78Arg) rs121918069
NM_000371.3(TTR):c.238A>G (p.Thr80Ala) rs121918070
NM_000371.3(TTR):c.241G>A (p.Glu81Lys) rs121918086
NM_000371.3(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.3(TTR):c.262A>T (p.Ile88Leu) rs121918085
NM_000371.3(TTR):c.270A>C (p.Lys90Asn) rs267607160
NM_000371.3(TTR):c.272T>C (p.Val91Ala) rs121918084
NM_000371.3(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.3(TTR):c.311T>G (p.Ile104Ser) rs121918072
NM_000371.3(TTR):c.325G>C (p.Glu109Gln) rs121918082
NM_000371.3(TTR):c.328C>A (p.His110Asn) rs121918074
NM_000371.3(TTR):c.349G>T (p.Ala117Ser) rs267607161
NM_000371.3(TTR):c.350C>G (p.Ala117Gly) rs121918087
NM_000371.3(TTR):c.371G>A (p.Arg124His) rs121918095
NM_000371.3(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.3(TTR):c.391C>A (p.Leu131Met) rs121918073
NM_000371.3(TTR):c.401A>G (p.Tyr134Cys) rs121918075
NM_000371.3(TTR):c.421_423GTC[1] (p.Val142del) rs121918096
NM_000371.3(TTR):c.424G>A (p.Val142Ile) rs76992529
NM_000371.3(TTR):c.88T>C (p.Cys30Arg) rs121918083
NM_000371.3(TTR):c.95T>C (p.Leu32Pro) rs121918094

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