ClinVar Miner

List of variants in gene COL3A1 studied for Connective tissue disorder

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.3525+19del rs138061246 0.01120
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000090.4(COL3A1):c.114C>G (p.Ser38=) rs141241764 0.00054
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00023
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=) rs111567071 0.00018
NM_000090.4(COL3A1):c.1128C>T (p.His376=) rs771015742 0.00006
NM_000090.4(COL3A1):c.3132C>T (p.Gly1044=) rs369992399 0.00003
NM_000090.4(COL3A1):c.219C>T (p.Asp73=) rs886038228 0.00001
NM_000090.4(COL3A1):c.3526-10C>T rs376171095 0.00001
NM_000090.4(COL3A1):c.706C>T (p.Pro236Ser) rs771858477 0.00001
NM_000090.4(COL3A1):c.1194+5G>C rs1688245023
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.4(COL3A1):c.1815+16C>T rs1559057656
NM_000090.4(COL3A1):c.1924-8C>A rs1553508534
NM_000090.4(COL3A1):c.528+12T>C rs1057523141

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