ClinVar Miner

List of variants in gene COL12A1 studied for not specified

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.5871T>A (p.Ala1957=) rs594012 0.87913
NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser) rs970547 0.72620
NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr) rs240736 0.29412
NM_004370.6(COL12A1):c.8265+19A>T rs9447445 0.11270
NM_004370.6(COL12A1):c.7786A>G (p.Ile2596Val) rs35710072 0.05341
NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val) rs35523808 0.03556
NM_004370.6(COL12A1):c.4001-10G>A rs73749974 0.02617
NM_004370.6(COL12A1):c.2772T>C (p.Tyr924=) rs35429515 0.02487
NM_004370.6(COL12A1):c.5225G>A (p.Arg1742His) rs79830915 0.02025
NM_004370.6(COL12A1):c.8980T>C (p.Ser2994Pro) rs34846477 0.01603
NM_004370.6(COL12A1):c.834T>G (p.Ala278=) rs16886258 0.01455
NM_004370.6(COL12A1):c.1551A>G (p.Thr517=) rs34767467 0.01428
NM_004370.6(COL12A1):c.2007G>A (p.Ala669=) rs77790445 0.01425
NM_004370.6(COL12A1):c.2086T>C (p.Leu696=) rs116691242 0.01422
NM_004370.6(COL12A1):c.8650-19T>A rs79461746 0.01255
NM_004370.6(COL12A1):c.6198A>C (p.Pro2066=) rs34619869 0.01132
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939 0.00867
NM_004370.6(COL12A1):c.5508G>A (p.Thr1836=) rs77425231 0.00776
NM_004370.6(COL12A1):c.2481G>A (p.Thr827=) rs35170847 0.00506
NM_004370.6(COL12A1):c.9162C>T (p.Tyr3054=) rs35292916 0.00501
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.4691-12G>A rs146472530 0.00243
NM_004370.6(COL12A1):c.5727C>T (p.Tyr1909=) rs146146364 0.00173
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.4613A>G (p.Asn1538Ser) rs115246424 0.00026
NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln) rs367630003 0.00016
NM_004370.6(COL12A1):c.4479G>A (p.Gln1493=) rs370024636 0.00014
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met) rs201749138 0.00011
NM_004370.6(COL12A1):c.1892-6A>T rs60109744 0.00005
NM_004370.6(COL12A1):c.2314C>T (p.Pro772Ser) rs370256196 0.00004
NM_004370.6(COL12A1):c.1741C>T (p.Arg581Cys) rs764727126 0.00002
NM_004370.6(COL12A1):c.1216G>A (p.Ala406Thr) rs377285294 0.00001
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.1892-19_1892-18dup rs11347601
NM_004370.6(COL12A1):c.1892-19dup rs11347601
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.7698-19_7698-15del rs141102808
NM_004370.6(COL12A1):c.822G>A (p.Leu274=)
NM_004370.6(COL12A1):c.8325C>G (p.Pro2775=) rs886038548
NM_004370.6(COL12A1):c.8524-6C>A rs777596531

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