ClinVar Miner

List of variants studied for citrullinemia by Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.1311C>T (p.Cys437=) rs879255502 0.00003
NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu) rs139149160 0.00003
NM_014251.3(SLC25A13):c.1958A>G (p.Lys653Arg) rs879255501 0.00001
NM_014251.3(SLC25A13):c.495del (p.Ala166fs) rs879255504
NM_014251.3(SLC25A13):c.616-11A>G rs879255503
NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter) rs746155190

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