ClinVar Miner

List of variants studied for Majeed syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_014646.2(LPIN2):c.1348G>A (p.Ala450Thr) rs771486222
NM_014646.2(LPIN2):c.1514T>C (p.Ile505Thr) rs146424724
NM_014646.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155

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