ClinVar Miner

List of variants in gene B4GALT7 reported as uncertain significance for Ehlers-Danlos syndrome progeroid type

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
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) rs1468472910
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) rs756942664
NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr) rs146632722

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