ClinVar Miner

List of variants studied for spondyloepiphyseal dysplasia with metatarsal shortening

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925 0.01027
NM_001844.5(COL2A1):c.2160C>A (p.Gly720=) rs145704340 0.00654
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847 0.00073
NM_001844.5(COL2A1):c.870+11C>T rs191695664 0.00036
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543 0.00019
NM_001844.5(COL2A1):c.4419C>T (p.Pro1473=) rs775923357 0.00015
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=) rs200214562 0.00014
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys) rs376772481 0.00009
NM_001844.5(COL2A1):c.2886C>T (p.Asp962=) rs150951022 0.00006
NM_001844.5(COL2A1):c.312A>G (p.Gly104=) rs139205058 0.00005
NM_001844.5(COL2A1):c.4014C>T (p.Ser1338=) rs939449148 0.00004
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr) rs781554389 0.00001
NM_001844.5(COL2A1):c.1679G>C (p.Arg560Pro) rs1186241291 0.00001
NM_001844.5(COL2A1):c.1757G>A (p.Arg586His) rs371440147 0.00001
NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys) rs1431778644 0.00001
NM_001844.5(COL2A1):c.2638G>A (p.Val880Met) rs886043832 0.00001
NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln) rs570320774 0.00001
NM_001844.5(COL2A1):c.3111+5G>A rs1429492734 0.00001
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys) rs1938732355 0.00001
NM_001844.5(COL2A1):c.4254C>T (p.Asp1418=) rs748658390 0.00001
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser) rs1939189846
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) rs794727261
NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) rs886042009
NM_001844.5(COL2A1):c.2734-18C>T rs570573455
NM_001844.5(COL2A1):c.2858del (p.Pro953fs) rs2136527926
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) rs121912876
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) rs1555168505

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