ClinVar Miner

List of variants reported as pathogenic for Spondyloepiphyseal dysplasia congenita

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001395891.1(CLASP1):c.196-591C>T rs756026847 0.00009
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886 0.00005
NM_001844.5(COL2A1):c.3574C>T (p.Arg1192Ter) rs886042651 0.00001
NM_001844.5(COL2A1):c.1069G>A (p.Gly357Ser) rs1423486005
NM_001844.5(COL2A1):c.1105G>C (p.Gly369Arg) rs1085307657
NM_001844.5(COL2A1):c.1114G>A (p.Gly372Arg) rs1555167783
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser) rs1025202963
NM_001844.5(COL2A1):c.1195G>A (p.Gly399Arg) rs2136579152
NM_001844.5(COL2A1):c.1780G>A (p.Gly594Arg) rs2136564199
NM_001844.5(COL2A1):c.2005G>A (p.Gly669Ser) rs1939205327
NM_001844.5(COL2A1):c.2024G>A (p.Gly675Asp) rs1565679062
NM_001844.5(COL2A1):c.2095G>T (p.Gly699Cys) rs2136551691
NM_001844.5(COL2A1):c.2600G>T (p.Gly867Val) rs886042849
NM_001844.5(COL2A1):c.2671G>A (p.Gly891Ser) rs121912879
NM_001844.5(COL2A1):c.2780G>T (p.Gly927Val) rs2540113631
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.3301G>A (p.Gly1101Arg) rs864621973
NM_001844.5(COL2A1):c.3346G>T (p.Gly1116Cys) rs2136518773
NM_001844.5(COL2A1):c.3442_3444del (p.Ser1148del) rs1938718648
NM_001844.5(COL2A1):c.3463G>C (p.Gly1155Arg) rs2136516744
NM_001844.5(COL2A1):c.3489+163_3597+2del rs1555164872
NM_001844.5(COL2A1):c.3510_3554dup (p.Pro1186_Pro1187insSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyPro) rs2136514302
NM_001844.5(COL2A1):c.3517G>C (p.Gly1173Arg) rs121912883
NM_001844.5(COL2A1):c.3553G>C (p.Gly1185Arg) rs1938688718
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.3589G>C (p.Gly1197Arg) rs121912870
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) rs1555168505
NM_001844.5(COL2A1):c.980G>T (p.Gly327Val) rs2136605023

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