ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro) rs772497399
NM_001875.5(CPS1):c.1836+2T>C
NM_001875.5(CPS1):c.2376G>C (p.Met792Ile) rs1553513429
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)
NM_001875.5(CPS1):c.381+2T>C
NM_001875.5(CPS1):c.4274+2T>C rs1374322297
NM_001875.5(CPS1):c.528+2T>C

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