ClinVar Miner

List of variants reported as likely benign for Amyloidosis, hereditary systemic 1 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384 0.00019
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00013
NM_000371.4(TTR):c.354C>T (p.Asn118=) rs11541797 0.00009
NM_000371.4(TTR):c.411C>T (p.Ser137=) rs759874627 0.00006
NM_000371.4(TTR):c.201-4A>G rs775510503 0.00005
NM_000371.4(TTR):c.336+18C>T rs370628373 0.00005
NM_000371.4(TTR):c.437A>G (p.Lys146Arg) rs536294863 0.00005
NM_000371.4(TTR):c.375C>T (p.Tyr125=) rs749079577 0.00004
NM_000371.4(TTR):c.405C>G (p.Ser135=) rs760153126 0.00003
NM_000371.4(TTR):c.70-20C>T rs773578107 0.00003
NM_000371.4(TTR):c.70-9T>C rs764059061 0.00003
NM_000371.4(TTR):c.441A>G (p.Glu147=) rs370056601 0.00002
NM_000371.4(TTR):c.78T>C (p.Gly26=) rs779457244 0.00002
NM_000371.4(TTR):c.121C>A (p.Arg41=) rs1004021945 0.00001
NM_000371.4(TTR):c.147C>T (p.Ala49=) rs11081703 0.00001
NM_000371.4(TTR):c.200+12A>G rs2073494805 0.00001
NM_000371.4(TTR):c.200+15A>G rs1485205541 0.00001
NM_000371.4(TTR):c.200+17C>A rs767333203 0.00001
NM_000371.4(TTR):c.200+20T>C rs2073494875 0.00001
NM_000371.4(TTR):c.201-16C>T rs941725460 0.00001
NM_000371.4(TTR):c.24C>T (p.Leu8=) rs991342939 0.00001
NM_000371.4(TTR):c.267C>T (p.Tyr89=) rs757950308 0.00001
NM_000371.4(TTR):c.315C>A (p.Ser105=) rs11541787 0.00001
NM_000371.4(TTR):c.336+8T>C rs1176464590 0.00001
NM_000371.4(TTR):c.337-12C>T rs190504111 0.00001
NM_000371.4(TTR):c.337-13T>C rs762691667 0.00001
NM_000371.4(TTR):c.408T>C (p.Tyr136=) rs1454790119 0.00001
NM_000371.4(TTR):c.40C>T (p.Leu14=) rs1347695561 0.00001
NM_000371.4(TTR):c.423C>T (p.Val141=) rs557320637 0.00001
NM_000371.4(TTR):c.69+12T>C rs368643414 0.00001
NM_000371.4(TTR):c.70-16T>C rs759512847 0.00001
NM_000371.4(TTR):c.70-4C>T rs780910338 0.00001
NM_000371.4(TTR):c.75C>T (p.Thr25=) rs750051388 0.00001
NM_000371.4(TTR):c.108T>A (p.Val36=) rs1598844071
NM_000371.4(TTR):c.114T>C (p.Asp38=) rs779619795
NM_000371.4(TTR):c.117T>A (p.Ala39=) rs2510932359
NM_000371.4(TTR):c.120C>T (p.Val40=) rs2510932365
NM_000371.4(TTR):c.141T>C (p.Asn47=) rs1252826226
NM_000371.4(TTR):c.147C>A (p.Ala49=) rs11081703
NM_000371.4(TTR):c.156G>A (p.Val52=) rs2144406775
NM_000371.4(TTR):c.160A>C (p.Arg54=) rs1598844184
NM_000371.4(TTR):c.174T>C (p.Asp58=) rs2510932404
NM_000371.4(TTR):c.180C>T (p.Thr60=) rs2510932405
NM_000371.4(TTR):c.186G>A (p.Glu62=)
NM_000371.4(TTR):c.195C>T (p.Ala65=) rs571695233
NM_000371.4(TTR):c.198T>G (p.Ser66=) rs2510932422
NM_000371.4(TTR):c.200+14G>T rs2144406929
NM_000371.4(TTR):c.200+7del rs1204783100
NM_000371.4(TTR):c.200+8G>T rs761675505
NM_000371.4(TTR):c.201-10C>A rs1380934184
NM_000371.4(TTR):c.201-10C>T rs1380934184
NM_000371.4(TTR):c.201-16C>G
NM_000371.4(TTR):c.201-7C>T rs769870882
NM_000371.4(TTR):c.201-9A>C rs1036613084
NM_000371.4(TTR):c.216T>C (p.Ser72=)
NM_000371.4(TTR):c.21C>T (p.Leu7=) rs2144405313
NM_000371.4(TTR):c.223C>T (p.Leu75=) rs2073510448
NM_000371.4(TTR):c.231G>A (p.Gly77=) rs1555631396
NM_000371.4(TTR):c.249A>G (p.Glu83=) rs2510933032
NM_000371.4(TTR):c.285C>T (p.Thr95=)
NM_000371.4(TTR):c.300G>A (p.Lys100=) rs2144409644
NM_000371.4(TTR):c.327G>A (p.Glu109=) rs876661395
NM_000371.4(TTR):c.330T>C (p.His110=)
NM_000371.4(TTR):c.333A>G (p.Ala111=) rs1231398400
NM_000371.4(TTR):c.336+10C>G rs2510933093
NM_000371.4(TTR):c.336+10C>T
NM_000371.4(TTR):c.337-16C>G rs775387343
NM_000371.4(TTR):c.337-19T>C
NM_000371.4(TTR):c.36T>C (p.Ala12=)
NM_000371.4(TTR):c.381T>C (p.Ile127=) rs751430411
NM_000371.4(TTR):c.387C>A (p.Ala129=) rs772657903
NM_000371.4(TTR):c.390G>A (p.Leu130=) rs1256987800
NM_000371.4(TTR):c.390G>C (p.Leu130=) rs1256987800
NM_000371.4(TTR):c.390G>T (p.Leu130=)
NM_000371.4(TTR):c.391C>T (p.Leu131=) rs121918073
NM_000371.4(TTR):c.396C>T (p.Ser132=) rs2144414307
NM_000371.4(TTR):c.45A>G (p.Val15=) rs2510932004
NM_000371.4(TTR):c.54T>C (p.Ser18=) rs1349724236
NM_000371.4(TTR):c.57G>A (p.Glu19=) rs756202543
NM_000371.4(TTR):c.66T>C (p.Pro22=) rs2144405395
NM_000371.4(TTR):c.69+10T>C rs1179187406
NM_000371.4(TTR):c.69+10del
NM_000371.4(TTR):c.69+13G>C rs2073488528
NM_000371.4(TTR):c.69+7G>A rs1453023289
NM_000371.4(TTR):c.6T>G (p.Ala2=) rs2510931978
NM_000371.4(TTR):c.70-19G>A rs548935944
NM_000371.4(TTR):c.70-19G>C
NM_000371.4(TTR):c.70-19G>T rs548935944
NM_000371.4(TTR):c.70-5C>T rs757103675
NM_000371.4(TTR):c.70-9T>A rs764059061
NM_000371.4(TTR):c.72C>T (p.Gly24=)
NM_000371.4(TTR):c.9T>C (p.Ser3=) rs1598843600

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