ClinVar Miner

List of variants in gene COL6A2 reported as likely pathogenic for congenital muscular dystrophy

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828 0.00627
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val) rs774521989 0.00005
NM_001849.4(COL6A2):c.2489G>A (p.Arg830Gln) rs139552940 0.00004
NM_001849.4(COL6A2):c.2627G>A (p.Arg876His) rs1012567148 0.00004
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp) rs373072443 0.00003
NM_001849.4(COL6A2):c.1591G>A (p.Gly531Ser) rs778364096 0.00001
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter) rs749593004 0.00001
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn) rs387906610 0.00001
NM_001849.4(COL6A2):c.2809C>T (p.Arg937Trp) rs755352246 0.00001
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys) rs2078408746 0.00001
NM_001849.4(COL6A2):c.982G>A (p.Gly328Arg) rs779867653 0.00001
NC_000021.8:g.(?_47542769)_(47546475_?)dup
NC_000021.8:g.(?_47545206)_(47546374_?)del
NM_001849.4(COL6A2):c.-27-3C>G rs1288520983
NM_001849.4(COL6A2):c.1000-13_1030del rs1555873353
NM_001849.4(COL6A2):c.1021C>A (p.Pro341Thr)
NM_001849.4(COL6A2):c.1054-2A>G rs886044023
NM_001849.4(COL6A2):c.1055delG rs1555873507
NM_001849.4(COL6A2):c.111C>A (p.Cys37Ter) rs986393872
NM_001849.4(COL6A2):c.1179+1G>A rs2078514224
NM_001849.4(COL6A2):c.1179+1G>T
NM_001849.4(COL6A2):c.1180-1G>A
NM_001849.4(COL6A2):c.1180-2A>G rs1601232289
NM_001849.4(COL6A2):c.1269_1270insCATCATCCCTCTACATTTTTTAACCAAATCAACAACAACCTATTTAGCTGTTCCCCAACCTTTTCCTCCGACAGCCG (p.Gly424fs)
NM_001849.4(COL6A2):c.1275_1282del (p.Arg426fs)
NM_001849.4(COL6A2):c.1382dup (p.Asn461fs)
NM_001849.4(COL6A2):c.1459-2_1459-1del
NM_001849.4(COL6A2):c.1522-1G>C
NM_001849.4(COL6A2):c.1671+1G>T
NM_001849.4(COL6A2):c.1770+1G>A rs752803039
NM_001849.4(COL6A2):c.1770+2T>C
NM_001849.4(COL6A2):c.1806C>A (p.Cys602Ter) rs751987553
NM_001849.4(COL6A2):c.1817-2A>G rs111697581
NM_001849.4(COL6A2):c.1817-3_1817-2del rs1491048605
NM_001849.4(COL6A2):c.1861G>C (p.Asp621His) rs267606750
NM_001849.4(COL6A2):c.1868C>T (p.Ser623Phe) rs2123661865
NM_001849.4(COL6A2):c.1969+1G>T
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn) rs786205642
NM_001849.4(COL6A2):c.2040dup (p.Ile681fs) rs886039905
NM_001849.4(COL6A2):c.2093C>T (p.Ala698Val) rs1085307668
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_001849.4(COL6A2):c.2254_2255del (p.Val752fs)
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001849.4(COL6A2):c.2638_2656dup (p.Gly886fs)
NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys) rs150168522
NM_001849.4(COL6A2):c.3006_3007insTC (p.Asp1003fs)
NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn) rs983938730
NM_001849.4(COL6A2):c.543_735+396del rs2078415602
NM_001849.4(COL6A2):c.735+9_784del
NM_001849.4(COL6A2):c.784G>T (p.Gly262Cys) rs2123620765
NM_001849.4(COL6A2):c.785G>T (p.Gly262Val) rs886042943
NM_001849.4(COL6A2):c.801G>A (p.Lys267=) rs2078439012
NM_001849.4(COL6A2):c.802-2A>G rs886044399
NM_001849.4(COL6A2):c.802G>C (p.Gly268Arg) rs2123625485
NM_001849.4(COL6A2):c.803G>T (p.Gly268Val) rs397515333
NM_001849.4(COL6A2):c.848G>T (p.Gly283Val) rs886044088
NM_001849.4(COL6A2):c.855+1G>T rs1057517988
NM_001849.4(COL6A2):c.856G>A (p.Gly286Arg) rs2123626018
NM_001849.4(COL6A2):c.883G>A (p.Gly295Arg) rs1555872873
NM_001849.4(COL6A2):c.901-3C>G rs112317259
NM_001849.4(COL6A2):c.911G>T (p.Gly304Val) rs727502832
NM_001849.4(COL6A2):c.927+5G>A
NM_001849.4(COL6A2):c.928-2A>G rs1440070681
NM_001849.4(COL6A2):c.954+1G>C rs2123628251
NM_001849.4(COL6A2):c.954G>T (p.Lys318Asn) rs878854362
NM_001849.4(COL6A2):c.955-3_955-1delinsAA rs1568929639
NM_001849.4(COL6A2):c.999+9_1053+32del rs2078478648

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