ClinVar Miner

List of variants studied for citrullinemia by Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs) rs80338725 0.00001
NM_014251.3(SLC25A13):c.1349A>G (p.Glu450Gly)
NM_014251.3(SLC25A13):c.1751-5_1751-4insGATTTCTCCA
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720

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