ClinVar Miner

List of variants studied for Fabry disease by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

Included ClinVar conditions (2):
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Total variants: 12
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NM_000169.2(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000169.2(GLA):c.680G>A (p.Arg227Gln) rs104894840
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp) rs104894827
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.3(GLA):c.386T>C (p.Leu129Pro) rs727503072
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.640-801G>A rs199473684
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197
NM_000169.3(GLA):c.802-3_804delinsGGCAACTTT rs727504773
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828

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