ClinVar Miner

List of variants reported as likely benign for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_152490.5(B3GALNT2):c.321G>A (p.Glu107=) rs291396 0.46094
NM_152490.5(B3GALNT2):c.276C>T (p.Phe92=) rs114039725 0.00070
NM_152490.5(B3GALNT2):c.402C>T (p.Asp134=) rs144848710 0.00064
NM_152490.5(B3GALNT2):c.1368+13G>T rs372425330 0.00046
NM_152490.5(B3GALNT2):c.369T>C (p.Asn123=) rs149734145 0.00036
NM_152490.5(B3GALNT2):c.1215C>T (p.Pro405=) rs145518904 0.00029
NM_152490.5(B3GALNT2):c.1151+14T>C rs376973193 0.00028
NM_152490.5(B3GALNT2):c.81G>T (p.Pro27=) rs766891631 0.00024
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842 0.00016
NM_152490.5(B3GALNT2):c.843A>G (p.Glu281=) rs543981282 0.00011
NM_152490.5(B3GALNT2):c.279A>C (p.Ile93=) rs148341787 0.00010
NM_152490.5(B3GALNT2):c.579C>T (p.Phe193=) rs745391527 0.00010
NM_152490.5(B3GALNT2):c.361+13T>G rs367788823 0.00008
NM_152490.5(B3GALNT2):c.633A>G (p.Glu211=) rs746548557 0.00007
NM_152490.5(B3GALNT2):c.1095T>C (p.Ala365=) rs751231735 0.00005
NM_152490.5(B3GALNT2):c.30G>A (p.Pro10=) rs986453979 0.00005
NM_152490.5(B3GALNT2):c.390T>C (p.Ser130=) rs139582216 0.00005
NM_152490.5(B3GALNT2):c.102C>G (p.Ala34=) rs1358930332 0.00004
NM_152490.5(B3GALNT2):c.1434G>A (p.Pro478=) rs754116208 0.00004
NM_152490.5(B3GALNT2):c.396C>T (p.Ser132=) rs140100348 0.00004
NM_152490.5(B3GALNT2):c.1116A>G (p.Gln372=) rs777198285 0.00003
NM_152490.5(B3GALNT2):c.261-11A>G rs768326815 0.00003
NM_152490.5(B3GALNT2):c.537T>C (p.Leu179=) rs775836647 0.00003
NM_152490.5(B3GALNT2):c.978C>T (p.Val326=) rs368371048 0.00003
NM_152490.5(B3GALNT2):c.1092A>G (p.Glu364=) rs565049275 0.00002
NM_152490.5(B3GALNT2):c.249A>T (p.Thr83=) rs770930732 0.00002
NM_152490.5(B3GALNT2):c.258A>G (p.Gln86=) rs369467106 0.00002
NM_152490.5(B3GALNT2):c.362-12C>T rs546633200 0.00002
NM_152490.5(B3GALNT2):c.699T>C (p.Leu233=) rs368068535 0.00002
NM_152490.5(B3GALNT2):c.762+8del rs754890407 0.00002
NM_152490.5(B3GALNT2):c.897T>C (p.His299=) rs781287494 0.00002
NM_152490.5(B3GALNT2):c.1025+15T>C rs1445379451 0.00001
NM_152490.5(B3GALNT2):c.1026-8G>T rs765661953 0.00001
NM_152490.5(B3GALNT2):c.1041G>A (p.Thr347=) rs775702524 0.00001
NM_152490.5(B3GALNT2):c.1065A>G (p.Thr355=) rs373246690 0.00001
NM_152490.5(B3GALNT2):c.1089C>T (p.Leu363=) rs1057522976 0.00001
NM_152490.5(B3GALNT2):c.1104T>C (p.Asn368=) rs765751968 0.00001
NM_152490.5(B3GALNT2):c.1152-15T>C rs764693057 0.00001
NM_152490.5(B3GALNT2):c.1182C>T (p.Thr394=) rs373186743 0.00001
NM_152490.5(B3GALNT2):c.1197G>A (p.Glu399=) rs1398625005 0.00001
NM_152490.5(B3GALNT2):c.1308T>C (p.Tyr436=) rs371512953 0.00001
NM_152490.5(B3GALNT2):c.1371C>T (p.Asp457=) rs200368164 0.00001
NM_152490.5(B3GALNT2):c.1446G>A (p.Thr482=) rs202105146 0.00001
NM_152490.5(B3GALNT2):c.384G>A (p.Ala128=) rs1049290415 0.00001
NM_152490.5(B3GALNT2):c.411G>A (p.Ser137=) rs1443841724 0.00001
NM_152490.5(B3GALNT2):c.444T>C (p.Ser148=) rs780140983 0.00001
NM_152490.5(B3GALNT2):c.492C>T (p.Tyr164=) rs1363202163 0.00001
NM_152490.5(B3GALNT2):c.555+12T>C rs1277419946 0.00001
NM_152490.5(B3GALNT2):c.69G>T (p.Leu23=) rs1234413183 0.00001
NM_152490.5(B3GALNT2):c.723G>A (p.Val241=) rs777394575 0.00001
NM_152490.5(B3GALNT2):c.842-4A>G rs750335648 0.00001
NC_000001.11:g.235455553ACTT[3]
NM_003193.5(TBCE):c.*1584G>C rs1572474537
NM_152490.5(B3GALNT2):c.1009T>C (p.Leu337=)
NM_152490.5(B3GALNT2):c.1014C>T (p.Asn338=) rs2102789767
NM_152490.5(B3GALNT2):c.1025+13A>T
NM_152490.5(B3GALNT2):c.1025+14A>C
NM_152490.5(B3GALNT2):c.1025+16G>T rs1005203212
NM_152490.5(B3GALNT2):c.1026-13T>C
NM_152490.5(B3GALNT2):c.1026-18T>C
NM_152490.5(B3GALNT2):c.1026-5A>T
NM_152490.5(B3GALNT2):c.102C>T (p.Ala34=) rs1358930332
NM_152490.5(B3GALNT2):c.1032G>A (p.Val344=)
NM_152490.5(B3GALNT2):c.1038A>G (p.Thr346=)
NM_152490.5(B3GALNT2):c.1050T>C (p.Asn350=)
NM_152490.5(B3GALNT2):c.1051T>C (p.Leu351=)
NM_152490.5(B3GALNT2):c.1056G>A (p.Leu352=)
NM_152490.5(B3GALNT2):c.1057C>T (p.Leu353=)
NM_152490.5(B3GALNT2):c.112+10T>G rs1572574802
NM_152490.5(B3GALNT2):c.112+14G>A
NM_152490.5(B3GALNT2):c.112+9C>T rs1055699299
NM_152490.5(B3GALNT2):c.113-14G>A
NM_152490.5(B3GALNT2):c.113-14_113-12del
NM_152490.5(B3GALNT2):c.113-19G>A rs2102863411
NM_152490.5(B3GALNT2):c.1152-17A>G
NM_152490.5(B3GALNT2):c.1152-19A>G rs1553342808
NM_152490.5(B3GALNT2):c.1188G>A (p.Lys396=) rs2102782719
NM_152490.5(B3GALNT2):c.1209G>A (p.Pro403=)
NM_152490.5(B3GALNT2):c.1233A>T (p.Ala411=) rs1683061203
NM_152490.5(B3GALNT2):c.1245A>T (p.Gly415=) rs1683060580
NM_152490.5(B3GALNT2):c.1257C>T (p.Ser419=)
NM_152490.5(B3GALNT2):c.1266C>T (p.Ile422=) rs762656574
NM_152490.5(B3GALNT2):c.1290G>A (p.Ser430=) rs1572482699
NM_152490.5(B3GALNT2):c.1293G>A (p.Gly431=)
NM_152490.5(B3GALNT2):c.1311+15C>A rs2102782415
NM_152490.5(B3GALNT2):c.1311+9_1311+11del rs1572482653
NM_152490.5(B3GALNT2):c.1312-8A>G rs2102780564
NM_152490.5(B3GALNT2):c.1375C>T (p.Leu459=)
NM_152490.5(B3GALNT2):c.1425G>A (p.Gln475=) rs1682818290
NM_152490.5(B3GALNT2):c.1434G>T (p.Pro478=) rs754116208
NM_152490.5(B3GALNT2):c.1443G>C (p.Leu481=)
NM_152490.5(B3GALNT2):c.1458A>G (p.Lys486=)
NM_152490.5(B3GALNT2):c.1467A>G (p.Glu489=)
NM_152490.5(B3GALNT2):c.1468C>A (p.Arg490=) rs751445150
NM_152490.5(B3GALNT2):c.150C>T (p.His50=) rs774499951
NM_152490.5(B3GALNT2):c.168C>T (p.Gly56=)
NM_152490.5(B3GALNT2):c.177A>G (p.Ser59=) rs2102863197
NM_152490.5(B3GALNT2):c.192T>C (p.His64=)
NM_152490.5(B3GALNT2):c.204C>T (p.Asn68=) rs1057182171
NM_152490.5(B3GALNT2):c.219C>T (p.Thr73=)
NM_152490.5(B3GALNT2):c.260+11T>G rs779108946
NM_152490.5(B3GALNT2):c.260+18T>C
NM_152490.5(B3GALNT2):c.261-7C>A
NM_152490.5(B3GALNT2):c.30G>T (p.Pro10=)
NM_152490.5(B3GALNT2):c.339A>G (p.Lys113=) rs575352096
NM_152490.5(B3GALNT2):c.361+20G>A
NM_152490.5(B3GALNT2):c.362-10C>T
NM_152490.5(B3GALNT2):c.362-12C>G
NM_152490.5(B3GALNT2):c.362-20A>G
NM_152490.5(B3GALNT2):c.438C>T (p.Ser146=)
NM_152490.5(B3GALNT2):c.519G>A (p.Arg173=)
NM_152490.5(B3GALNT2):c.51G>T (p.Leu17=)
NM_152490.5(B3GALNT2):c.558G>A (p.Glu186=) rs2102834901
NM_152490.5(B3GALNT2):c.564C>T (p.Leu188=) rs1684490953
NM_152490.5(B3GALNT2):c.57C>T (p.Leu19=) rs1572574971
NM_152490.5(B3GALNT2):c.588A>G (p.Pro196=) rs773287935
NM_152490.5(B3GALNT2):c.606G>T (p.Val202=) rs2102834750
NM_152490.5(B3GALNT2):c.627C>T (p.Pro209=)
NM_152490.5(B3GALNT2):c.636A>G (p.Gln212=)
NM_152490.5(B3GALNT2):c.63G>A (p.Leu21=) rs2102880423
NM_152490.5(B3GALNT2):c.652-12T>C rs2102815609
NM_152490.5(B3GALNT2):c.652-18T>A
NM_152490.5(B3GALNT2):c.669C>T (p.Ile223=)
NM_152490.5(B3GALNT2):c.690C>T (p.Leu230=)
NM_152490.5(B3GALNT2):c.72C>T (p.Arg24=)
NM_152490.5(B3GALNT2):c.744A>T (p.Gly248=)
NM_152490.5(B3GALNT2):c.756C>A (p.Val252=) rs765281101
NM_152490.5(B3GALNT2):c.75C>T (p.Ser25=) rs1244053981
NM_152490.5(B3GALNT2):c.762+12T>C
NM_152490.5(B3GALNT2):c.762+8G>A rs77267353
NM_152490.5(B3GALNT2):c.762+8G>T rs77267353
NM_152490.5(B3GALNT2):c.762+9T>G
NM_152490.5(B3GALNT2):c.763-10T>C rs747403347
NM_152490.5(B3GALNT2):c.807G>A (p.Glu269=) rs1436382802
NM_152490.5(B3GALNT2):c.84C>T (p.Pro28=) rs1572574900
NM_152490.5(B3GALNT2):c.861C>T (p.His287=)
NM_152490.5(B3GALNT2):c.936G>A (p.Glu312=) rs554067980
NM_152490.5(B3GALNT2):c.951T>C (p.Tyr317=)
NM_152490.5(B3GALNT2):c.99G>A (p.Gly33=)

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