ClinVar Miner

List of variants in gene GGCX reported as pathogenic by OMIM

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000821.7(GGCX):c.899C>T (p.Ser300Phe) rs121909684 0.00006
NM_000821.7(GGCX):c.763G>A (p.Val255Met) rs121909683 0.00003
NM_000821.7(GGCX):c.1181T>G (p.Leu394Arg) rs121909675 0.00001
NM_000821.7(GGCX):c.1426C>T (p.Arg476Cys) rs121909681 0.00001
NM_000821.7(GGCX):c.1427G>A (p.Arg476His) rs121909682 0.00001
G537Y
NM_000821.7(GGCX):c.1120C>T (p.Gln374Ter) rs121909680
NM_000821.7(GGCX):c.1454G>C (p.Arg485Pro) rs121909676
NM_000821.7(GGCX):c.1478G>C (p.Trp493Ser) rs121909679
NM_000821.7(GGCX):c.1502G>C (p.Trp501Ser) rs28928872
NM_000821.7(GGCX):c.1672G>A (p.Gly558Arg) rs121909678
NM_000821.7(GGCX):c.215-1G>T rs786205096
NM_000821.7(GGCX):c.896T>C (p.Phe299Ser) rs121909677

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