ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_007255.3(B4GALT7):c.219T>C (p.Arg73=) rs11537644
NM_007255.3(B4GALT7):c.297G>T (p.Val99=) rs114036939
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=) rs142951817
NM_007255.3(B4GALT7):c.413+60C>G rs28499092
NM_007255.3(B4GALT7):c.777T>C (p.His259=) rs729459
NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg) rs867336520
NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup) rs1553151151
NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys) rs777778007
NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) rs142820961
NM_080605.4(B3GALT6):c.483G>A (p.Ala161=) rs373668725

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