ClinVar Miner

List of variants studied for Fabry disease by Blueprint Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_000169.2(GLA):c.1229C>T (p.Thr410Ile) rs730880442
NM_000169.2(GLA):c.679C>T (p.Arg227Ter) rs104894841
NM_001199973.2(RPL36A-HNRNPH2):c.300+3090del rs869025435
NM_033118.3(MYLK2):c.902C>A (p.Thr301Asn) rs587782968

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