ClinVar Miner

List of variants in gene COL1A2 reported by Baylor Genetics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_000089.4(COL1A2):c.1404+4A>C rs369907691 0.00002
NM_000089.4(COL1A2):c.2815G>A (p.Asp939Asn) rs776169837 0.00001
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg) rs1584320605
NM_000089.4(COL1A2):c.1504-2A>G
NM_000089.4(COL1A2):c.2324G>A (p.Gly775Glu) rs1792148801
NM_000089.4(COL1A2):c.2503G>A (p.Gly835Ser) rs72658193
NM_000089.4(COL1A2):c.2657G>T (p.Gly886Val) rs1562906570
NM_000089.4(COL1A2):c.2684G>A (p.Gly895Asp) rs72659305
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.4(COL1A2):c.3287_3288insTCCCCCTGT (p.Pro1098_Gly1099insValProPro) rs1562908061
NM_000089.4(COL1A2):c.604G>A (p.Gly202Ser) rs72656376
NM_000089.4(COL1A2):c.776G>A (p.Gly259Asp) rs1584318648

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