ClinVar Miner

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

Included ClinVar conditions (4):
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Total variants: 14
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NM_007255.3(B4GALT7):c.122T>C (p.Leu41Pro) rs375845310
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634
NM_007255.3(B4GALT7):c.421C>T (p.Arg141Trp) rs187063864
NM_007255.3(B4GALT7):c.557C>A (p.Ala186Asp) rs121917817
NM_007255.3(B4GALT7):c.617T>C (p.Leu206Pro) rs121917818
NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr) rs753594601
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) rs28937869
NM_080605.4(B3GALT6):c.16C>T (p.Arg6Trp) rs397514722
NM_080605.4(B3GALT6):c.353del (p.Asp118fs) rs750088530
NM_080605.4(B3GALT6):c.415_423del (p.Met139_Ala141del) rs786200942
NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys) rs1314046622
NM_080605.4(B3GALT6):c.556T>C (p.Phe186Leu) rs1553151294
NM_080605.4(B3GALT6):c.588del (p.Arg197fs) rs533071750
NM_080605.4(B3GALT6):c.925T>A (p.Ser309Thr) rs397514721

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