ClinVar Miner

List of variants in gene COL1A2 reported by Paediatric Orthopaedics Research Lab, Christian Medical College

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.1613G>A (p.Gly538Asp) rs1584322496
NM_000089.4(COL1A2):c.2026-1_2042dup rs1584325529
NM_000089.4(COL1A2):c.2434C>T (p.Pro812Ser) rs1584327886
NM_000089.4(COL1A2):c.757G>C (p.Gly253Arg) rs1584318623

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