ClinVar Miner

List of variants studied for familial visceral amyloidosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_021871.4(FGA):c.181-14C>T rs190703077 0.00240
NM_021871.4(FGA):c.300G>A (p.Lys100=) rs112877216 0.00240
NM_021871.4(FGA):c.780G>A (p.Glu260=) rs145563362 0.00167
NM_004048.4(B2M):c.67+19C>T rs185185288 0.00091
NM_000039.3(APOA1):c.315C>T (p.Gly105=) rs148950234 0.00032
NM_004048.4(B2M):c.68-13C>T rs149900092 0.00032
NM_021871.4(FGA):c.1199C>T (p.Ser400Phe) rs184635235 0.00031
NM_000039.3(APOA1):c.555G>C (p.Thr185=) rs143182884 0.00023
NM_000039.3(APOA1):c.200+19G>A rs377408912 0.00013
NM_000039.3(APOA1):c.726G>C (p.Leu242=) rs567268961 0.00013
NM_004048.4(B2M):c.340A>C (p.Lys114Gln) rs372078625 0.00011
NM_021871.4(FGA):c.510+1G>T rs146387238 0.00009
NM_000039.3(APOA1):c.80C>A (p.Pro27His) rs121912720 0.00007
NM_021871.4(FGA):c.1444G>A (p.Val482Met) rs139146037 0.00006
NM_000239.3(LYZ):c.175C>T (p.Arg59Ter) rs374990260 0.00004
NM_000239.3(LYZ):c.434G>A (p.Gly145Asp) rs762616173 0.00004
NM_021871.4(FGA):c.923G>A (p.Arg308Gln) rs760992799 0.00004
NM_000039.3(APOA1):c.483G>C (p.Leu161=) rs747245248 0.00003
NM_000239.3(LYZ):c.269G>A (p.Gly90Glu) rs141911537 0.00003
NM_000039.3(APOA1):c.127G>A (p.Val43Met) rs373545875 0.00002
NM_000039.3(APOA1):c.168G>A (p.Gln56=) rs760886281 0.00002
NM_004048.4(B2M):c.278C>A (p.Thr93Asn) rs778103494 0.00002
NM_021871.4(FGA):c.502C>T (p.Arg168Ter) rs755117226 0.00002
NM_021871.4(FGA):c.8C>T (p.Ser3Phe) rs771156473 0.00002
NM_000039.3(APOA1):c.101G>T (p.Arg34Leu) rs28929476 0.00001
NM_000039.3(APOA1):c.126C>T (p.Tyr42=) rs1591331259 0.00001
NM_000039.3(APOA1):c.379G>A (p.Asp127Asn) rs921646982 0.00001
NM_004048.4(B2M):c.67+12C>T rs771780544 0.00001
NM_021871.4(FGA):c.104G>A (p.Arg35His) rs121909607 0.00001
NM_021871.4(FGA):c.1560C>T (p.Phe520=) rs778304190 0.00001
NM_021871.4(FGA):c.1634A>T (p.Glu545Val) rs121909612 0.00001
NM_021871.4(FGA):c.346G>A (p.Asp116Asn) rs886059153 0.00001
NM_021871.4(FGA):c.364+1G>A rs778779380 0.00001
NM_021871.4(FGA):c.532C>T (p.Arg178Ter) rs140911890 0.00001
NM_000039.3(APOA1):c.148G>C (p.Gly50Arg) rs28931574
NM_000039.3(APOA1):c.162G>C (p.Val54=) rs193922099
NM_000039.3(APOA1):c.271G>T (p.Val91Leu) rs2134231457
NM_000039.3(APOA1):c.532_533dup (p.His179fs) rs781350389
NM_000239.3(LYZ):c.209C>G (p.Thr70Ser) rs1349579951
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys) rs121909613
NM_000508.5(FGA):c.2350C>T (p.Gln784Ter) rs148824832
NM_004048.4(B2M):c.67+1G>T rs863225287
NM_021871.4(FGA):c.922C>T (p.Arg308Ter) rs776817952

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