ClinVar Miner

List of variants reported as uncertain significance for Familial amyloid polyneuropathy, Iowa type; Hypoalphalipoproteinemia, primary, 2; Hypoalphalipoproteinemia, primary, 2, intermediate

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000039.3(APOA1):c.178T>G (p.Ser60Ala) rs199759119 0.00043
NM_000039.3(APOA1):c.158A>G (p.Tyr53Cys) rs750185173 0.00007
NM_000039.3(APOA1):c.80C>A (p.Pro27His) rs121912720 0.00007
NM_000039.3(APOA1):c.498C>A (p.Ser166Arg) rs757899657 0.00004
NM_000039.3(APOA1):c.28G>A (p.Val10Met) rs750125257 0.00003
NM_000039.3(APOA1):c.83C>G (p.Pro28Arg) rs121912721 0.00003
NM_000039.3(APOA1):c.41C>T (p.Thr14Met) rs778560581 0.00002
NM_000039.3(APOA1):c.101G>T (p.Arg34Leu) rs28929476 0.00001
NM_000039.3(APOA1):c.-21+22G>A
NM_000039.3(APOA1):c.132T>A (p.Asp44Glu)
NM_000039.3(APOA1):c.149G>T (p.Gly50Val)
NM_000039.3(APOA1):c.154G>A (p.Asp52Asn)
NM_000039.3(APOA1):c.20C>A (p.Thr7Asn)
NM_000039.3(APOA1):c.368C>T (p.Pro123Leu)
NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del) rs532489785
NM_000039.3(APOA1):c.389A>G (p.Lys130Arg)
NM_000039.3(APOA1):c.423G>C (p.Gln141His)
NM_000039.3(APOA1):c.42G>A (p.Thr14=)
NM_000039.3(APOA1):c.44-12T>G
NM_000039.3(APOA1):c.44-5C>G
NM_000039.3(APOA1):c.508G>A (p.Glu170Lys)
NM_000039.3(APOA1):c.512A>T (p.Glu171Val)
NM_000039.3(APOA1):c.527C>G (p.Ala176Gly)
NM_000039.3(APOA1):c.537T>G (p.His179Gln)
NM_000039.3(APOA1):c.558T>A (p.His186Gln)
NM_000039.3(APOA1):c.563C>T (p.Ala188Val)
NM_000039.3(APOA1):c.569A>T (p.Tyr190Phe)
NM_000039.3(APOA1):c.576C>A (p.Asp192Glu)
NM_000039.3(APOA1):c.658G>C (p.Ala220Pro)
NM_000039.3(APOA1):c.664G>A (p.Glu222Lys) rs121912717
NM_000039.3(APOA1):c.752T>A (p.Val251Asp) rs760566805
NM_000039.3(APOA1):c.775G>T (p.Glu259Ter)
NM_000039.3(APOA1):c.781A>G (p.Thr261Ala)
NM_000039.3(APOA1):c.789G>T (p.Lys263Asn)
NM_000039.3(APOA1):c.794_796dup (p.Asn265_Thr266insAsn) rs747014491
NM_000039.3(APOA1):c.87G>C (p.Gln29His)
NM_000039.3(APOA1):c.88A>G (p.Ser30Gly)

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