ClinVar Miner

List of variants in gene COL3A1 reported by CSER _CC_NCGL, University of Washington

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Total variants: 7
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HGVS dbSNP gnomAD frequency
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.1550C>T (p.Pro517Leu) rs142085247 0.00080
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe) rs111391222 0.00061
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000090.4(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193 0.00011
NM_000090.4(COL3A1):c.3626G>C (p.Gly1209Ala) rs374452484 0.00001

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