ClinVar Miner

List of variants in gene COL12A1 reported as likely benign for not specified

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761 0.00484
NM_004370.6(COL12A1):c.4245T>C (p.Tyr1415=) rs34830422 0.00420
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala) rs200408101 0.00111
NM_004370.6(COL12A1):c.1188A>C (p.Ala396=) rs202153313 0.00034
NM_004370.6(COL12A1):c.4479G>A (p.Gln1493=) rs370024636 0.00014
NM_004370.6(COL12A1):c.2835T>C (p.Asp945=) rs777357134 0.00001
NM_004370.6(COL12A1):c.4617G>A (p.Thr1539=) rs557622937 0.00001
NM_004370.6(COL12A1):c.1830T>G (p.Phe610Leu) rs886038544
NM_004370.6(COL12A1):c.191-9T>C rs886038545
NM_004370.6(COL12A1):c.3565+18A>G rs886038546
NM_004370.6(COL12A1):c.4827+19T>C rs762333534
NM_004370.6(COL12A1):c.5665-14A>G rs886038547
NM_004370.6(COL12A1):c.8325C>G (p.Pro2775=) rs886038548
NM_004370.6(COL12A1):c.8524-6C>A rs777596531

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