ClinVar Miner

List of variants in gene CPS1 reported as likely pathogenic by Mendelics

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.1291G>A (p.Gly431Arg) rs778766382
NM_001875.5(CPS1):c.3125A>C (p.Asp1042Ala) rs1574632659
NM_001875.5(CPS1):c.3517G>C (p.Ala1173Pro) rs1574646079

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