ClinVar Miner

List of variants in gene COL12A1 reported as likely pathogenic

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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter) rs1329022055 0.00001
NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter) rs1304140510 0.00001
NM_004370.6(COL12A1):c.4418-1G>A rs984784417 0.00001
NM_004370.6(COL12A1):c.5230+1G>A rs1274606112 0.00001
NM_004370.5(COL12A1):c.7356del rs1473576494
NM_004370.6(COL12A1):c.1840C>T (p.Gln614Ter) rs1562294703
NM_004370.6(COL12A1):c.2179C>T (p.Arg727Ter) rs1064796670
NM_004370.6(COL12A1):c.2233C>T (p.Gln745Ter) rs1554186583
NM_004370.6(COL12A1):c.2561del (p.Gly854fs) rs1582179372
NM_004370.6(COL12A1):c.334+1G>A
NM_004370.6(COL12A1):c.3715+1G>T
NM_004370.6(COL12A1):c.394+1G>A
NM_004370.6(COL12A1):c.395-2A>C rs1562310723
NM_004370.6(COL12A1):c.3959C>G (p.Ser1320Ter)
NM_004370.6(COL12A1):c.4000+1G>A rs2149416563
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter) rs1767310072
NM_004370.6(COL12A1):c.4957+1G>A rs1366112521
NM_004370.6(COL12A1):c.5097+1G>A
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) rs755536829
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile) rs201408175
NM_004370.6(COL12A1):c.5524+1G>A rs1766495554
NM_004370.6(COL12A1):c.5528del (p.Pro1843fs)
NM_004370.6(COL12A1):c.563C>T (p.Thr188Ile) rs1131691587
NM_004370.6(COL12A1):c.5664+1G>A rs1766437216
NM_004370.6(COL12A1):c.5765G>A (p.Gly1922Glu) rs1766404539
NM_004370.6(COL12A1):c.5795-2A>C
NM_004370.6(COL12A1):c.6067+1G>A rs1766265062
NM_004370.6(COL12A1):c.6507T>A (p.Tyr2169Ter)
NM_004370.6(COL12A1):c.6724+1G>C
NM_004370.6(COL12A1):c.6819del (p.Phe2273fs) rs1765881602
NM_004370.6(COL12A1):c.6872-2A>G rs2149372690
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) rs796052093
NM_004370.6(COL12A1):c.73+1G>A
NM_004370.6(COL12A1):c.7519+1G>A rs1064797326
NM_004370.6(COL12A1):c.756dup (p.Ser253fs) rs1582208315
NM_004370.6(COL12A1):c.7697+1G>C
NM_004370.6(COL12A1):c.7803_7806del (p.Asp2601fs)
NM_004370.6(COL12A1):c.7992del (p.Ile2664fs) rs1768708203
NM_004370.6(COL12A1):c.8065G>A (p.Gly2689Arg) rs1554169319
NM_004370.6(COL12A1):c.8100+3_8100+6del rs2149352927
NM_004370.6(COL12A1):c.8101-1G>T rs2149349312
NM_004370.6(COL12A1):c.8179-2A>G rs1768495540
NM_004370.6(COL12A1):c.8258G>A (p.Gly2753Asp) rs1768488927
NM_004370.6(COL12A1):c.8265+1G>A rs2149347624
NM_004370.6(COL12A1):c.8265+2T>C rs1064795770
NM_004370.6(COL12A1):c.8319+1G>C rs1768416586
NM_004370.6(COL12A1):c.8320-15_8379delinsCA
NM_004370.6(COL12A1):c.8360_8365delinsTCCAGGCCTCCA (p.Pro2787_Gly2789delinsLeuGlnAlaSerSer)
NM_004370.6(COL12A1):c.8366G>T (p.Gly2789Val)
NM_004370.6(COL12A1):c.8393_8415+5del rs2149344192
NM_004370.6(COL12A1):c.8415+1G>C rs1768356177
NM_004370.6(COL12A1):c.8453G>A (p.Gly2818Glu) rs1554168326
NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter) rs371399251
NM_004370.6(COL12A1):c.9053G>A (p.Gly3018Asp) rs2149322991
NM_004370.6(COL12A1):c.9114dup (p.Gly3039fs) rs1582025807
NM_004370.6(COL12A1):c.9142C>T (p.Gln3048Ter) rs1131691933

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