ClinVar Miner

List of variants in gene COL12A1 reported as pathogenic for not provided

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.5794+2T>A rs1266090046 0.00001
NM_004370.5(COL12A1):c.7356del rs1473576494
NM_004370.6(COL12A1):c.1954del (p.Trp652fs) rs1769260264
NM_004370.6(COL12A1):c.2179C>T (p.Arg727Ter) rs1064796670
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter) rs1767310072
NM_004370.6(COL12A1):c.8365G>C (p.Gly2789Arg) rs1768359621

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