ClinVar Miner

List of variants in gene COL3A1 reported by GenomeConnect, ClinGen

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Total variants: 11
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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.1526G>A (p.Arg509His) rs568986390 0.00006
NM_000090.4(COL3A1):c.3462T>G (p.Ser1154Arg) rs769100283 0.00004
NM_000090.4(COL3A1):c.101A>G (p.His34Arg) rs752110396 0.00001
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly) rs376603102 0.00001
NM_000090.4(COL3A1):c.4295G>T (p.Arg1432Leu) rs772428340 0.00001
NM_000090.4(COL3A1):c.4357G>A (p.Asp1453Asn) rs1131691353 0.00001
NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter) rs1057518075
NM_000090.4(COL3A1):c.3490G>A (p.Gly1164Arg) rs587779553
NM_000090.4(COL3A1):c.951+1G>A rs587779652
NM_000090.4(COL3A1):c.997G>C (p.Gly333Arg) rs1688217136

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