ClinVar Miner

List of variants in gene COL1A1 reported as benign by Preventiongenetics, part of Exact Sciences

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=) rs2734272 0.99956
NM_000088.4(COL1A1):c.299-20C>G rs2256835 0.54824
NM_000088.4(COL1A1):c.4249-12G>A rs2249492 0.52233
NM_000088.4(COL1A1):c.2560-18C>G rs2075559 0.50861
NM_000088.4(COL1A1):c.1930-14T>C rs2696247 0.13425
NM_000088.4(COL1A1):c.642+18A>C rs16948767 0.12150
NM_000088.4(COL1A1):c.177G>T (p.Arg59=) rs1057297 0.04003

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