ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, spondylodysplastic type by Revvity Omics, Revvity

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_007255.3(B4GALT7):c.791G>A (p.Arg264Gln) rs375644526 0.00013
NM_001128225.3(SLC39A13):c.302-3T>C rs371414744 0.00012
NM_007255.3(B4GALT7):c.421C>T (p.Arg141Trp) rs187063864 0.00005
NM_007255.3(B4GALT7):c.337C>T (p.Pro113Ser) rs138496419 0.00003
NM_001128225.3(SLC39A13):c.-9+256T>C
NM_001128225.3(SLC39A13):c.943G>A (p.Glu315Lys)
NM_007255.3(B4GALT7):c.188G>T (p.Gly63Val)
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634

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