List of variants reported as likely pathogenic for Spondyloepiphyseal dysplasia congenita

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NR_023343.3(RNU4ATAC):n.8C>T	rs370715569	0.00025
NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser)	rs865903887	0.00001
NM_001844.5(COL2A1):c.1052G>T (p.Gly351Val)	rs1939615464
NM_001844.5(COL2A1):c.1457G>A (p.Gly486Asp)	rs1939412490
NM_001844.5(COL2A1):c.1502G>A (p.Gly501Glu)	rs1455304547
NM_001844.5(COL2A1):c.1581+1G>A	rs2540147368
NM_001844.5(COL2A1):c.2104G>A (p.Gly702Ser)	rs2540136191
NM_001844.5(COL2A1):c.2645G>T (p.Gly882Val)
NM_001844.5(COL2A1):c.2860G>A (p.Gly954Ser)	rs1938864270
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)	rs121912874
NM_001844.5(COL2A1):c.3897G>T (p.Trp1299Cys)	rs2136508895
NM_001844.5(COL2A1):c.4133T>A (p.Leu1378Gln)	rs2136505985
NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg)	rs1565664095
NM_001844.5(COL2A1):c.610-2A>G	rs2540175543
NM_001844.5(COL2A1):c.620G>T (p.Gly207Val)	rs2136619125

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