ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome progeroid type by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NC_000001.10:g.(?_1146915)_(1168668_?)dup
NC_000001.11:g.(?_1013554)_(1313808_?)del
NM_007255.3(B4GALT7):c.218_219inv (p.Arg73His)
NM_007255.3(B4GALT7):c.225C>T (p.Cys75=) rs780427259
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr) rs142476892
NM_007255.3(B4GALT7):c.297G>T (p.Val99=) rs114036939
NM_007255.3(B4GALT7):c.374G>A (p.Arg125Gln)
NM_007255.3(B4GALT7):c.387C>T (p.Tyr129=) rs200124872
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=) rs142951817
NM_007255.3(B4GALT7):c.589A>G (p.Lys197Glu) rs200732558
NM_007255.3(B4GALT7):c.662T>C (p.Phe221Ser) rs1468472910
NM_007255.3(B4GALT7):c.676C>T (p.Arg226Cys) rs201489289
NM_007255.3(B4GALT7):c.697C>T (p.Arg233Trp) rs147617631
NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr) rs146632722
NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg) rs867336520
NM_080605.4(B3GALT6):c.138C>T (p.Ser46=) rs190796582
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) rs1131691530
NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup) rs1553151151
NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg) rs1409554936
NM_080605.4(B3GALT6):c.31C>T (p.Arg11Trp) rs1039242906
NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu) rs558454078
NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly) rs900539403
NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys) rs777778007
NM_080605.4(B3GALT6):c.446del (p.Phe149fs) rs1553151257
NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) rs142820961
NM_080605.4(B3GALT6):c.483G>A (p.Ala161=) rs373668725
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val) rs200646244
NM_080605.4(B3GALT6):c.655G>A (p.Val219Met) rs1557526653
NM_080605.4(B3GALT6):c.753G>A (p.Pro251=) rs370328225
NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp)

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