ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome progeroid type

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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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.277C>T (p.His93Tyr) rs142476892
NM_007255.3(B4GALT7):c.374G>A (p.Arg125Gln)
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833
NM_007255.3(B4GALT7):c.662T>C (p.Phe221Ser)
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) rs756942664
NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr) rs146632722
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) rs1131691530
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)
NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly) rs900539403
NM_080605.4(B3GALT6):c.446del (p.Phe149fs) rs1553151257
NM_080605.4(B3GALT6):c.655G>A (p.Val219Met) rs1557526653
NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp)

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