ClinVar Miner

List of variants in gene COL2A1 studied for Achondrogenesis type II

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.1941+18C>T rs753819738 0.00001
NM_001844.5(COL2A1):c.3160G>A (p.Val1054Ile) rs371635111 0.00001
NM_001844.5(COL2A1):c.3575G>A (p.Arg1192Gln) rs779252535 0.00001
NM_001844.5(COL2A1):c.1232G>A (p.Gly411Glu) rs2136577158
NM_001844.5(COL2A1):c.1267-2_1269del rs2136576211
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser)
NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu) rs868417981
NM_001844.5(COL2A1):c.1547G>A (p.Gly516Asp) rs121912888
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser) rs886044555
NM_001844.5(COL2A1):c.1637G>T (p.Gly546Val) rs121912899
NM_001844.5(COL2A1):c.1680+2T>G rs1565681966
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.1952G>T (p.Gly651Val) rs1447463543
NM_001844.5(COL2A1):c.1979G>A (p.Gly660Glu) rs1555166729
NM_001844.5(COL2A1):c.2111dup (p.Gly705fs) rs1939177362
NM_001844.5(COL2A1):c.2114G>A (p.Gly705Asp) rs2136551606
NM_001844.5(COL2A1):c.2293G>A (p.Gly765Ser)
NM_001844.5(COL2A1):c.2302-1G>T
NM_001844.5(COL2A1):c.2355+1G>A rs1939124946
NM_001844.5(COL2A1):c.2401G>A (p.Gly801Ser)
NM_001844.5(COL2A1):c.2671G>C (p.Gly891Arg) rs121912879
NM_001844.5(COL2A1):c.2814del (p.Gly939fs) rs1555165494
NM_001844.5(COL2A1):c.2905G>A (p.Gly969Ser) rs121912878
NM_001844.5(COL2A1):c.2910_2918del (p.Pro971_Pro973del) rs2136526614
NM_001844.5(COL2A1):c.292+2T>A
NM_001844.5(COL2A1):c.2941G>A (p.Gly981Ser) rs2136526515
NM_001844.5(COL2A1):c.2995G>T (p.Gly999Cys) rs2136526244
NM_001844.5(COL2A1):c.3023G>T (p.Gly1008Val) rs765795867
NM_001844.5(COL2A1):c.3062_3079del (p.Pro1021_Gly1026del) rs1555165335
NM_001844.5(COL2A1):c.3077G>A (p.Gly1026Asp)
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) rs2136522964
NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser) rs1555165245
NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp) rs1555165242
NM_001844.5(COL2A1):c.3472G>C (p.Gly1158Arg) rs1057518911
NM_001844.5(COL2A1):c.3626G>A (p.Gly1209Asp)
NM_001844.5(COL2A1):c.3690G>C (p.Glu1230Asp) rs1347381176
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys) rs141951587
NM_001844.5(COL2A1):c.4345_4346del (p.Val1449fs)
NM_001844.5(COL2A1):c.491dup (p.Gly165fs) rs1592235241
NM_001844.5(COL2A1):c.734C>T (p.Pro245Leu) rs1592232018
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) rs121912876

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