ClinVar Miner

List of variants in gene COL27A1 reported as pathogenic for bone development disease

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_032888.4(COL27A1):c.2089G>C (p.Gly697Arg) rs140950220 0.00033
NM_032888.4(COL27A1):c.2119C>T (p.Arg707Ter) rs1401322428
NM_032888.4(COL27A1):c.2405G>A (p.Gly802Glu) rs1830954329
NM_032888.4(COL27A1):c.3075del (p.Lys1026fs) rs5900078
NM_032888.4(COL27A1):c.3294+1G>C rs2135594366
NM_032888.4(COL27A1):c.3556-2A>G rs1554821679
NM_032888.4(COL27A1):c.4519C>T (p.Arg1507Ter) rs1289391715
NM_032888.4(COL27A1):c.521_528del (p.Cys174fs) rs1554787559
NM_032888.4(COL27A1):c.93del (p.Phe32fs) rs1588550383

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