ClinVar Miner

List of variants in gene MOCS2 reported as likely pathogenic for not provided

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg) rs780085174 0.00004
NM_004531.5(MOCS2):c.567A>C (p.Ter189Tyr) rs121908609 0.00001
NM_004531.5(MOCS2):c.-169-1G>A
NM_004531.5(MOCS2):c.-169-2A>G
NM_004531.5(MOCS2):c.377+1G>A rs1389817466
NM_004531.5(MOCS2):c.471_477delinsG (p.Leu158_Lys159del)
NM_004531.5(MOCS2):c.539_540del (p.Lys180fs) rs398122797
NM_004531.5(MOCS2):c.99-2A>G
NM_176806.4(MOCS2):c.114G>A (p.Trp38Ter) rs1554028123

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