ClinVar Miner

List of variants studied for Alkuraya-Kucinskas syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001384125.1(BLTP1):c.5194T>C (p.Cys1732Arg) rs75923324 0.00161
NM_001384125.1(BLTP1):c.3986A>G (p.Tyr1329Cys) rs770791100 0.00006
NM_001384125.1(BLTP1):c.11514-1G>A rs2150047294
NM_001384125.1(BLTP1):c.12331G>T (p.Glu4111Ter) rs1787740370
NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter) rs730882245
NM_001384125.1(BLTP1):c.1654G>A (p.Val552Met)

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