ClinVar Miner

List of variants studied for Fabry disease by 3billion, Medical Genetics

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000169.3(GLA):c.239G>C (p.Gly80Ala) rs781838005 0.00001
NM_000169.3(GLA):c.43G>A (p.Ala15Thr) rs869312303 0.00001
NM_000169.3(GLA):c.61C>T (p.Leu21Phe) rs782164084 0.00001
NM_000169.3(GLA):c.1049C>T (p.Ala350Val)
NM_000169.3(GLA):c.1145G>C (p.Cys382Ser)
NM_000169.3(GLA):c.1190A>G (p.Tyr397Cys) rs2147470653
NM_000169.3(GLA):c.135_142del (p.His46fs) rs2147487148
NM_000169.3(GLA):c.170A>C (p.Gln57Pro) rs869312260
NM_000169.3(GLA):c.178C>T (p.Pro60Ser) rs727504689
NM_000169.3(GLA):c.181G>C (p.Asp61His)
NM_000169.3(GLA):c.195-2A>G rs2147480960
NM_000169.3(GLA):c.195-89_712del
NM_000169.3(GLA):c.553A>G (p.Lys185Glu) rs2147476184
NM_000169.3(GLA):c.557A>C (p.His186Pro)
NM_000169.3(GLA):c.559A>G (p.Met187Val) rs869312340
NM_000169.3(GLA):c.656T>C (p.Ile219Thr) rs2147473404
NM_000169.3(GLA):c.680G>A (p.Arg227Gln) rs104894840
NM_000169.3(GLA):c.708G>A (p.Trp236Ter) rs869312386
NM_000169.3(GLA):c.717A>G (p.Ile239Met) rs1928192530
NM_000169.3(GLA):c.779G>T (p.Gly260Val)
NM_000169.3(GLA):c.781G>T (p.Gly261Cys)
NM_000169.3(GLA):c.796G>A (p.Asp266Asn) rs869312407
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000169.3(GLA):c.936G>C (p.Gln312His)
NM_000169.3(GLA):c.946_947insACGACACATCAGCCCTCAAGCCAAAGCTCTCCTTCAGGATAAGGACG (p.Val316fs) rs2147471979
NM_000169.3(GLA):c.966C>G (p.Asp322Glu) rs398123226

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