ClinVar Miner

List of variants reported as likely pathogenic for Fabry disease by Albrecht-Kossel-Institute,Medical University Rostock

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000169.2(GLA):c.1124G>C (p.Gly375Ala) rs869312164
NM_000169.2(GLA):c.1176G>T (p.Arg392Ser) rs869312165
NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) rs782449839
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.2(GLA):c.337T>A (p.Phe113Ile) rs869312142
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.641C>T (p.Pro214Leu) rs869312150
NM_000169.2(GLA):c.657C>G (p.Ile219Met) rs869312151
NM_000169.2(GLA):c.761T>C (p.Val254Ala) rs869312153

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