ClinVar Miner

List of variants reported as uncertain significance for Amyloidosis, hereditary systemic 1

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Total variants: 122
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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 0.00038
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 0.00015
NM_000371.4(TTR):c.-61G>A rs770403822 0.00014
NM_000371.3(TTR):c.*234G>C rs542619281 0.00012
NM_000371.4(TTR):c.140A>G (p.Asn47Ser) rs145551875 0.00010
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.13C>T (p.Arg5Cys) rs144792001 0.00005
NM_000371.4(TTR):c.370C>T (p.Arg124Cys) rs745834030 0.00005
NM_000371.4(TTR):c.361G>A (p.Gly121Ser) rs755337715 0.00004
NM_000371.4(TTR):c.385G>A (p.Ala129Thr) rs267607159 0.00004
NM_000371.4(TTR):c.386C>T (p.Ala129Val) rs121918092 0.00003
NM_000371.4(TTR):c.431A>G (p.Asn144Ser) rs144965179 0.00003
NM_000371.4(TTR):c.70-9T>C rs764059061 0.00003
NM_000371.4(TTR):c.209G>A (p.Ser70Asn) rs121918080 0.00002
NM_000371.4(TTR):c.*31G>A rs553309501 0.00001
NM_000371.4(TTR):c.11A>T (p.His4Leu) rs1157253322 0.00001
NM_000371.4(TTR):c.122G>A (p.Arg41Gln) rs879254269 0.00001
NM_000371.4(TTR):c.127A>C (p.Ser43Arg) rs11541800 0.00001
NM_000371.4(TTR):c.136A>G (p.Ile46Val) rs773584864 0.00001
NM_000371.4(TTR):c.137T>C (p.Ile46Thr) rs1598844137 0.00001
NM_000371.4(TTR):c.151C>A (p.His51Asn) rs915983905 0.00001
NM_000371.4(TTR):c.170C>A (p.Ala57Asp) rs1294297409 0.00001
NM_000371.4(TTR):c.200+4A>G rs751512499 0.00001
NM_000371.4(TTR):c.212A>C (p.Glu71Ala) rs1335700058 0.00001
NM_000371.4(TTR):c.227A>G (p.His76Arg) rs78230119 0.00001
NM_000371.4(TTR):c.246G>C (p.Glu82Asp) rs754635255 0.00001
NM_000371.4(TTR):c.25C>T (p.Leu9Phe) rs762243340 0.00001
NM_000371.4(TTR):c.263T>C (p.Ile88Thr) rs1567946180 0.00001
NM_000371.4(TTR):c.314C>T (p.Ser105Phe) rs1322942118 0.00001
NM_000371.4(TTR):c.336+5G>A rs2073511528 0.00001
NM_000371.4(TTR):c.337-3T>C rs774027595 0.00001
NM_000371.4(TTR):c.383C>T (p.Ala128Val) rs1162409162 0.00001
NM_000371.4(TTR):c.406T>C (p.Tyr136His) rs766909913 0.00001
NM_000371.4(TTR):c.433C>T (p.Pro145Ser) rs1434519437 0.00001
NM_000371.4(TTR):c.434C>A (p.Pro145His) rs11541798 0.00001
NM_000371.4(TTR):c.65C>T (p.Pro22Leu) rs1215630426 0.00001
NM_000371.4(TTR):c.68C>T (p.Thr23Met) rs377052919 0.00001
NM_000371.4(TTR):c.69+1G>A rs1598843674 0.00001
NM_000371.4(TTR):c.69+5G>C rs1221178462 0.00001
NM_000371.4(TTR):c.69+6T>C rs758315427 0.00001
NM_000371.4(TTR):c.69G>A (p.Thr23=) rs752579437 0.00001
NC_000018.10:g.(?_31498242)_(31598685_?)dup
NC_000018.10:g.(?_31591160)_(31598685_?)dup
NC_000018.9:g.(?_28647971)_(29178648_?)dup
NC_000018.9:g.(?_29078215)_(29178638_?)del
NC_000018.9:g.(?_29078215)_(29178638_?)dup
NC_000018.9:g.(?_29098182)_(29178638_?)dup
NC_000018.9:g.(?_29178511)_(29178638_?)dup
NM_000371.3(TTR):c.-102G>T rs967658213
NM_000371.4(TTR):c.110T>C (p.Leu37Pro) rs2510932354
NM_000371.4(TTR):c.116_117insAGTCCTCGGTCAA (p.Arg41fs) rs778483568
NM_000371.4(TTR):c.11_13del (p.His4del) rs747545126
NM_000371.4(TTR):c.11_13dup (p.His4dup) rs747545126
NM_000371.4(TTR):c.121C>T (p.Arg41Ter) rs1004021945
NM_000371.4(TTR):c.124G>A (p.Gly42Ser) rs2144406621
NM_000371.4(TTR):c.12T>A (p.His4Gln) rs2144405297
NM_000371.4(TTR):c.13C>G (p.Arg5Gly) rs144792001
NM_000371.4(TTR):c.151C>G (p.His51Asp) rs915983905
NM_000371.4(TTR):c.151C>T (p.His51Tyr) rs915983905
NM_000371.4(TTR):c.169G>A (p.Ala57Thr) rs1380447419
NM_000371.4(TTR):c.171TGA[1] (p.Asp59del) rs1555631238
NM_000371.4(TTR):c.176A>G (p.Asp59Gly)
NM_000371.4(TTR):c.184G>A (p.Glu62Lys) rs2510932411
NM_000371.4(TTR):c.185A>C (p.Glu62Ala) rs11541796
NM_000371.4(TTR):c.200+2T>C rs1567945737
NM_000371.4(TTR):c.200+5G>T
NM_000371.4(TTR):c.201-1G>A rs2144409397
NM_000371.4(TTR):c.203A>C (p.Lys68Thr) rs2073510120
NM_000371.4(TTR):c.211G>A (p.Glu71Lys) rs933476040
NM_000371.4(TTR):c.232C>G (p.Leu78Val) rs2510933010
NM_000371.4(TTR):c.239C>G (p.Thr80Ser) rs1254341785
NM_000371.4(TTR):c.242A>G (p.Glu81Gly) rs1567946170
NM_000371.4(TTR):c.259G>C (p.Gly87Arg) rs11541799
NM_000371.4(TTR):c.270dup (p.Val91fs) rs2510933042
NM_000371.4(TTR):c.296G>C (p.Trp99Ser) rs730881171
NM_000371.4(TTR):c.298A>G (p.Lys100Glu)
NM_000371.4(TTR):c.304C>T (p.Leu102Phe) rs1131692003
NM_000371.4(TTR):c.305T>C (p.Leu102Pro) rs1356542149
NM_000371.4(TTR):c.316C>G (p.Pro106Ala) rs2510933077
NM_000371.4(TTR):c.335A>G (p.Glu112Gly) rs2510933086
NM_000371.4(TTR):c.337-3T>G rs774027595
NM_000371.4(TTR):c.337-527_349del rs2073525314
NM_000371.4(TTR):c.339G>A (p.Val113=) rs1567946955
NM_000371.4(TTR):c.340G>T (p.Val114Leu) rs2073528142
NM_000371.4(TTR):c.347C>G (p.Thr116Arg) rs1803082
NM_000371.4(TTR):c.34G>T (p.Ala12Ser) rs1567945391
NM_000371.4(TTR):c.356A>T (p.Asp119Val)
NM_000371.4(TTR):c.35C>A (p.Ala12Asp) rs2073488167
NM_000371.4(TTR):c.35C>T (p.Ala12Val) rs2073488167
NM_000371.4(TTR):c.361G>C (p.Gly121Arg) rs755337715
NM_000371.4(TTR):c.365C>G (p.Pro122Arg) rs11541793
NM_000371.4(TTR):c.365C>T (p.Pro122Leu) rs11541793
NM_000371.4(TTR):c.367C>G (p.Arg123Gly) rs371566010
NM_000371.4(TTR):c.367C>T (p.Arg123Cys) rs371566010
NM_000371.4(TTR):c.371G>T (p.Arg124Leu)
NM_000371.4(TTR):c.373T>C (p.Tyr125His) rs2073528574
NM_000371.4(TTR):c.37G>A (p.Gly13Arg) rs767889884
NM_000371.4(TTR):c.382G>A (p.Ala128Thr) rs2073528679
NM_000371.4(TTR):c.397C>T (p.Pro133Ser) rs730881166
NM_000371.4(TTR):c.408T>G (p.Tyr136Ter) rs1454790119
NM_000371.4(TTR):c.418G>A (p.Ala140Thr)
NM_000371.4(TTR):c.41T>C (p.Leu14Pro)
NM_000371.4(TTR):c.422T>C (p.Val141Ala)
NM_000371.4(TTR):c.427A>G (p.Thr143Ala) rs2510934165
NM_000371.4(TTR):c.432_437del (p.Asn144_Pro145del) rs886053745
NM_000371.4(TTR):c.62G>C (p.Gly21Ala) rs1469623969
NM_000371.4(TTR):c.65del (p.Pro22fs) rs2510932013
NM_000371.4(TTR):c.69+4A>T
NM_000371.4(TTR):c.69+4_69+7del rs2510932019
NM_000371.4(TTR):c.69G>C (p.Thr23=) rs752579437
NM_000371.4(TTR):c.70-20del rs2510932317
NM_000371.4(TTR):c.71G>A (p.Gly24Asp) rs1449262220
NM_000371.4(TTR):c.74C>T (p.Thr25Ile) rs2073492897
NM_000371.4(TTR):c.83C>T (p.Ser28Phe) rs1313375879
NM_000371.4(TTR):c.85A>G (p.Lys29Glu) rs1323375123
NM_000371.4(TTR):c.91C>T (p.Pro31Ser) rs2144406521
NM_000371.4(TTR):c.97_99dup (p.Met33dup) rs768348156
NM_000371.4(TTR):c.98T>A (p.Met33Lys) rs768273993

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