ClinVar Miner

List of variants in gene COL12A1 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 51
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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.5005G>C (p.Glu1669Gln) rs181511246 0.00147
NM_004370.6(COL12A1):c.8405C>T (p.Pro2802Leu) rs200646131 0.00125
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala) rs200408101 0.00111
NM_004370.6(COL12A1):c.8421C>T (p.Arg2807=) rs371949188 0.00103
NM_004370.6(COL12A1):c.7990A>G (p.Ile2664Val) rs41266763 0.00101
NM_004370.6(COL12A1):c.6641A>G (p.Gln2214Arg) rs41269303 0.00096
NM_004370.6(COL12A1):c.9006C>T (p.Pro3002=) rs184663595 0.00067
NM_004370.6(COL12A1):c.1215C>T (p.Ser405=) rs374962362 0.00051
NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala) rs200029869 0.00045
NM_004370.6(COL12A1):c.5085A>G (p.Ser1695=) rs190018580 0.00039
NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg) rs185171880 0.00035
NM_004370.6(COL12A1):c.1188A>C (p.Ala396=) rs202153313 0.00034
NM_004370.6(COL12A1):c.132A>G (p.Ser44=) rs201454637 0.00034
NM_004370.6(COL12A1):c.1892-7_1892-6insC rs34433354 0.00022
NM_004370.6(COL12A1):c.4479G>A (p.Gln1493=) rs370024636 0.00014
NM_004370.6(COL12A1):c.1050T>C (p.Val350=) rs372113789 0.00010
NM_004370.6(COL12A1):c.7854G>C (p.Thr2618=) rs190984968 0.00010
NM_004370.6(COL12A1):c.5466C>T (p.Thr1822=) rs373978519 0.00009
NM_004370.6(COL12A1):c.8856C>T (p.Ser2952=) rs375760724 0.00009
NM_004370.6(COL12A1):c.525G>A (p.Glu175=) rs199736979 0.00006
NM_004370.6(COL12A1):c.5478G>C (p.Leu1826=) rs201965731 0.00006
NM_004370.6(COL12A1):c.2880G>A (p.Thr960=) rs374531525 0.00005
NM_004370.6(COL12A1):c.2799C>T (p.Arg933=) rs372499120 0.00004
NM_004370.6(COL12A1):c.3021A>G (p.Glu1007=) rs368940290 0.00004
NM_004370.6(COL12A1):c.3566-8C>A rs201709757 0.00003
NM_004370.6(COL12A1):c.2679C>T (p.Asp893=) rs747852589 0.00002
NM_004370.6(COL12A1):c.2835T>C (p.Asp945=) rs777357134 0.00001
NM_004370.6(COL12A1):c.363G>A (p.Val121=) rs559388395 0.00001
NM_004370.6(COL12A1):c.4053T>C (p.Asp1351=) rs776829103 0.00001
NM_004370.6(COL12A1):c.4617G>A (p.Thr1539=) rs557622937 0.00001
NM_004370.6(COL12A1):c.5134G>A (p.Glu1712Lys) rs778415707 0.00001
NM_004370.6(COL12A1):c.5352G>A (p.Arg1784=) rs1372127467 0.00001
NM_004370.6(COL12A1):c.7722T>C (p.Pro2574=) rs748445921 0.00001
NM_004370.6(COL12A1):c.801T>C (p.Val267=) rs781375448 0.00001
NM_004370.6(COL12A1):c.8565A>G (p.Pro2855=) rs202239067 0.00001
NM_004370.6(COL12A1):c.1288+9A>G
NM_004370.6(COL12A1):c.1830T>G (p.Phe610Leu) rs886038544
NM_004370.6(COL12A1):c.191-9T>C rs886038545
NM_004370.6(COL12A1):c.2893C>T (p.Leu965=)
NM_004370.6(COL12A1):c.3565+18A>G rs886038546
NM_004370.6(COL12A1):c.4422A>G (p.Pro1474=) rs558383133
NM_004370.6(COL12A1):c.4701C>G (p.Pro1567=) rs17791238
NM_004370.6(COL12A1):c.4827+19T>C rs762333534
NM_004370.6(COL12A1):c.5665-14A>G rs886038547
NM_004370.6(COL12A1):c.5794T>C (p.Leu1932=)
NM_004370.6(COL12A1):c.633A>T (p.Pro211=)
NM_004370.6(COL12A1):c.7698-10T>C
NM_004370.6(COL12A1):c.8325C>G (p.Pro2775=) rs886038548
NM_004370.6(COL12A1):c.8524-6C>A rs777596531

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