ClinVar Miner

List of variants studied for Fabry disease by All of Us Research Program, National Institutes of Health

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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.619T>C (p.Tyr207His) rs372416832 0.00005
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000169.3(GLA):c.891T>C (p.Ser297=) rs782575087 0.00005
NM_000169.3(GLA):c.1184G>C (p.Gly395Ala) rs375661583 0.00004
NM_000169.3(GLA):c.1261A>G (p.Met421Val) rs144060196 0.00004
NM_000169.3(GLA):c.419A>C (p.Lys140Thr) rs150228150 0.00003
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro) rs886044779 0.00002
NM_000169.3(GLA):c.579G>C (p.Arg193Ser) rs782619655 0.00002
NM_000169.3(GLA):c.831G>C (p.Trp277Cys) rs782196174 0.00002
NM_000169.3(GLA):c.984G>T (p.Gly328=) rs376623208 0.00002
NM_000169.3(GLA):c.1095T>C (p.Tyr365=) rs104894849 0.00001
NM_000169.3(GLA):c.1127T>A (p.Val376Glu) rs1555984793 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.1207T>C (p.Leu403=) rs869312239 0.00001
NM_000169.3(GLA):c.133C>T (p.Leu45=) rs143084761 0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn) rs782722577 0.00001
NM_000169.3(GLA):c.313A>G (p.Arg105Gly) rs782092398 0.00001
NM_000169.3(GLA):c.361G>A (p.Ala121Thr) rs782197638 0.00001
NM_000169.3(GLA):c.43G>A (p.Ala15Thr) rs869312303 0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala) rs781871113 0.00001
NM_000169.3(GLA):c.640-11T>C rs782634293 0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000169.3(GLA):c.734G>T (p.Trp245Leu) rs398123220 0.00001
NM_000169.3(GLA):c.73G>A (p.Asp25Asn) rs781788693 0.00001
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 0.00001
NM_000169.3(GLA):c.-1A>C
NM_000169.3(GLA):c.1000-14dup
NM_000169.3(GLA):c.1000-9G>A rs1928143594
NM_000169.3(GLA):c.1001G>A (p.Gly334Glu)
NM_000169.3(GLA):c.1007A>C (p.Asn336Thr) rs1569302786
NM_000169.3(GLA):c.1048G>A (p.Ala350Thr) rs1555984843
NM_000169.3(GLA):c.1061T>A (p.Ile354Lys) rs1928135337
NM_000169.3(GLA):c.1101C>T (p.Ile367=) rs1928129537
NM_000169.3(GLA):c.1164C>T (p.Leu388=)
NM_000169.3(GLA):c.1165C>G (p.Pro389Ala)
NM_000169.3(GLA):c.119C>G (p.Pro40Arg) rs398123199
NM_000169.3(GLA):c.1266G>A (p.Gln422=) rs2147470421
NM_000169.3(GLA):c.178C>A (p.Pro60Thr) rs727504689
NM_000169.3(GLA):c.18A>G (p.Pro6=)
NM_000169.3(GLA):c.19G>C (p.Glu7Gln)
NM_000169.3(GLA):c.209T>C (p.Met70Thr)
NM_000169.3(GLA):c.228G>A (p.Met76Ile)
NM_000169.3(GLA):c.237A>G (p.Glu79=) rs2147480859
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.260A>T (p.Glu87Val)
NM_000169.3(GLA):c.305C>T (p.Ser102Leu)
NM_000169.3(GLA):c.317T>C (p.Leu106Pro)
NM_000169.3(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.3(GLA):c.357G>T (p.Gln119His)
NM_000169.3(GLA):c.369+3G>A rs1333591942
NM_000169.3(GLA):c.370-12C>T
NM_000169.3(GLA):c.377G>T (p.Ser126Ile)
NM_000169.3(GLA):c.388A>C (p.Lys130Gln)
NM_000169.3(GLA):c.44C>T (p.Ala15Val)
NM_000169.3(GLA):c.455A>T (p.Tyr152Phe)
NM_000169.3(GLA):c.469C>T (p.Gln157Ter) rs797044702
NM_000169.3(GLA):c.493G>A (p.Asp165Asn)
NM_000169.3(GLA):c.543A>G (p.Ala181=)
NM_000169.3(GLA):c.56T>C (p.Leu19Pro) rs1928592578
NM_000169.3(GLA):c.595G>T (p.Val199Leu)
NM_000169.3(GLA):c.64G>A (p.Val22Ile)
NM_000169.3(GLA):c.70T>A (p.Trp24Arg) rs397515871
NM_000169.3(GLA):c.74A>G (p.Asp25Gly)
NM_000169.3(GLA):c.752A>G (p.Glu251Gly)
NM_000169.3(GLA):c.781G>A (p.Gly261Ser) rs886044878
NM_000169.3(GLA):c.78C>T (p.Ile26=) rs869312405
NM_000169.3(GLA):c.790G>A (p.Asp264Asn)
NM_000169.3(GLA):c.802-14A>T
NM_000169.3(GLA):c.819T>C (p.Phe273=)
NM_000169.3(GLA):c.829T>G (p.Trp277Gly) rs727504372
NM_000169.3(GLA):c.848A>G (p.Gln283Arg)
NM_000169.3(GLA):c.852G>A (p.Met284Ile)
NM_000169.3(GLA):c.870G>A (p.Met290Ile) rs869312438
NM_000169.3(GLA):c.913C>T (p.Pro305Ser)
NM_000169.3(GLA):c.968C>G (p.Pro323Arg) rs869312159
NM_000169.3(GLA):c.972G>A (p.Leu324=)

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