ClinVar Miner

List of variants in gene COL3A1 studied for Inborn genetic diseases

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380 0.00014
NM_000090.4(COL3A1):c.4301G>A (p.Arg1434His) rs138533702 0.00010
NM_000090.4(COL3A1):c.3694G>A (p.Asp1232Asn) rs147663769 0.00009
NM_000090.4(COL3A1):c.3532C>T (p.Pro1178Ser) rs759565407 0.00003
NM_000090.4(COL3A1):c.3001C>G (p.Pro1001Ala) rs777180110 0.00002
NM_000090.4(COL3A1):c.1149+3A>G rs1466133249 0.00001
NM_000090.4(COL3A1):c.1761+6T>C rs189483688 0.00001
NM_000090.4(COL3A1):c.2114_2121+2del rs1688402212
NM_000090.4(COL3A1):c.314A>G (p.Gln105Arg)
NM_000090.4(COL3A1):c.3154C>T (p.Pro1052Ser) rs2153503729
NM_000090.4(COL3A1):c.333+4A>G rs1688041454
NM_000090.4(COL3A1):c.3989A>G (p.Glu1330Gly)
NM_000090.4(COL3A1):c.4012-6T>C
NM_000090.4(COL3A1):c.448-1G>T rs1688078187
NM_000090.4(COL3A1):c.973G>T (p.Ala325Ser)

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