List of variants reported as pathogenic for Achondrogenesis type II

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1267-2_1269del	rs2136576211
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.1979G>A (p.Gly660Glu)	rs1555166729
NM_001844.5(COL2A1):c.2302-1G>T
NM_001844.5(COL2A1):c.2355+1G>A	rs1939124946
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.2941G>A (p.Gly981Ser)	rs2136526515
NM_001844.5(COL2A1):c.3023G>T (p.Gly1008Val)	rs765795867
NM_001844.5(COL2A1):c.3077G>A (p.Gly1026Asp)
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser)	rs2136522964
NM_001844.5(COL2A1):c.491dup (p.Gly165fs)	rs1592235241
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)	rs121912876

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