ClinVar Miner

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

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_007255.3(B4GALT7):c.828+28A>G rs6600953 0.99130
NM_007255.3(B4GALT7):c.219T>C (p.Arg73=) rs11537644 0.65175
NM_007255.3(B4GALT7):c.777T>C (p.His259=) rs729459 0.58812
NM_007255.3(B4GALT7):c.828+20T>C rs755873 0.02090
NM_007255.3(B4GALT7):c.413+12C>G rs77537553 0.01194
NM_007255.3(B4GALT7):c.297G>T (p.Val99=) rs114036939 0.01155
NM_007255.3(B4GALT7):c.414-20G>A rs138092105 0.00252
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=) rs142951817 0.00140
NM_007255.3(B4GALT7):c.51-14C>T rs202024448 0.00079
NM_007255.3(B4GALT7):c.723+20G>A rs199543624 0.00074
NM_007255.3(B4GALT7):c.723+19C>T rs374080326 0.00028
NM_007255.3(B4GALT7):c.432C>T (p.Leu144=) rs369974140 0.00006
NM_007255.3(B4GALT7):c.413+60C>G rs28499092
NM_007255.3(B4GALT7):c.723+19del

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