ClinVar Miner

List of variants in gene COL1A2 reported as uncertain significance for not specified

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Total variants: 16
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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.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln) rs139446305 0.00021
NM_000089.4(COL1A2):c.2717G>A (p.Arg906His) rs147063981 0.00010
NM_000089.4(COL1A2):c.1690G>A (p.Ala564Thr) rs41317153 0.00003
NM_000089.4(COL1A2):c.700C>T (p.Arg234Cys) rs1206388800 0.00003
NM_000089.4(COL1A2):c.2933G>A (p.Arg978His) rs559605075 0.00002
NM_000089.4(COL1A2):c.2122C>T (p.Arg708Trp) rs139199272 0.00001
NM_000089.4(COL1A2):c.1068G>C (p.Glu356Asp) rs1057518430
NM_000089.4(COL1A2):c.139C>A (p.Pro47Thr) rs771800420
NM_000089.4(COL1A2):c.1886C>A (p.Ala629Asp)
NM_000089.4(COL1A2):c.2462_2464del (p.Pro821del)
NM_000089.4(COL1A2):c.2674-6G>C rs771442891
NM_000089.4(COL1A2):c.2713G>T (p.Ala905Ser) rs1344095248
NM_000089.4(COL1A2):c.3532_3543del (p.Tyr1178_Asp1181del) rs1554398685
NM_000089.4(COL1A2):c.792+17C>G rs1554395975

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