ClinVar Miner

List of variants studied for spondyloepimetaphyseal dysplasia, Strudwick type

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_212482.4(FN1):c.44A>T (p.Gln15Leu) rs1250259 0.79353
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.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.2308G>A (p.Val770Ile) rs368583168 0.00003
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr) rs781554389 0.00001
NM_001844.5(COL2A1):c.1148G>A (p.Arg383His) rs1417502139 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.2795G>A (p.Arg932Gln) rs570320774 0.00001
NM_001844.5(COL2A1):c.2947G>A (p.Val983Ile) rs772889503 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.3508G>A (p.Gly1170Ser) rs121912891 0.00001
NM_001844.5(COL2A1):c.4254C>T (p.Asp1418=) rs748658390 0.00001
NM_001844.5(COL2A1):c.725G>A (p.Arg242His) rs1023703904 0.00001
NM_001844.5(COL2A1):c.1043G>A (p.Gly348Asp) rs2136590361
NM_001844.5(COL2A1):c.1051G>C (p.Gly351Arg)
NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg) rs121912871
NM_001844.5(COL2A1):c.1115G>A (p.Gly372Glu) rs794727202
NM_001844.5(COL2A1):c.1240G>A (p.Gly414Arg)
NM_001844.5(COL2A1):c.1348G>C (p.Gly450Arg) rs2136575653
NM_001844.5(COL2A1):c.1365+3A>C
NM_001844.5(COL2A1):c.1475G>T (p.Gly492Val) rs121912881
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) rs121912880
NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys) rs121912880
NM_001844.5(COL2A1):c.1529G>T (p.Gly510Val)
NM_001844.5(COL2A1):c.1573G>A (p.Gly525Ser) rs2136568585
NM_001844.5(COL2A1):c.1693C>G (p.Arg565Gly)
NM_001844.5(COL2A1):c.1754G>A (p.Gly585Asp)
NM_001844.5(COL2A1):c.1780G>A (p.Gly594Arg) rs2136564199
NM_001844.5(COL2A1):c.1A>G (p.Met1Val) rs2136652928
NM_001844.5(COL2A1):c.2131G>A (p.Gly711Ser)
NM_001844.5(COL2A1):c.2167G>A (p.Gly723Ser) rs1939173389
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) rs794727261
NM_001844.5(COL2A1):c.2725G>A (p.Gly909Ser)
NM_001844.5(COL2A1):c.2725G>T (p.Gly909Cys) rs121912875
NM_001844.5(COL2A1):c.2734-18C>T rs570573455
NM_001844.5(COL2A1):c.2771G>A (p.Gly924Glu)
NM_001844.5(COL2A1):c.2858del (p.Pro953fs) rs2136527926
NM_001844.5(COL2A1):c.2974A>G (p.Arg992Gly) rs121912895
NM_001844.5(COL2A1):c.3040G>A (p.Gly1014Arg)
NM_001844.5(COL2A1):c.3085G>T (p.Gly1029Cys)
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) rs2136522964
NM_001844.5(COL2A1):c.3252G>T (p.Lys1084Asn)
NM_001844.5(COL2A1):c.3293G>A (p.Gly1098Glu)
NM_001844.5(COL2A1):c.3554G>A (p.Gly1185Glu) rs2136514291
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.3679_3680insAA (p.Gly1227fs)
NM_001844.5(COL2A1):c.4168A>C (p.Thr1390Pro)
NM_001844.5(COL2A1):c.4348A>G (p.Ile1450Val) rs113238468
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) rs1555168505
NM_001844.5(COL2A1):c.917_918delinsA (p.Gly306fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.