ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001046.3(SLC12A2):c.2361T>G (p.Phe787Leu) rs200341368
NM_001046.3(SLC12A2):c.2617-2A>G rs2479456601
NM_001046.3(SLC12A2):c.2756T>C (p.Val919Ala) rs2479466823
NM_001046.3(SLC12A2):c.2894C>A (p.Ser965Tyr) rs529490835
NM_001046.3(SLC12A2):c.959C>A (p.Ser320Ter) rs1326445668

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