ClinVar Miner

List of variants reported as benign for Ehlers-Danlos syndrome, spondylodysplastic type by Invitae

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001128225.3(SLC39A13):c.83A>G (p.Glu28Gly) rs2010519 0.94826
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_001128225.3(SLC39A13):c.301+20C>T rs755555 0.27982
NM_001128225.3(SLC39A13):c.573G>A (p.Ala191=) rs2293576 0.25113
NM_001128225.3(SLC39A13):c.301+15G>A rs61000762 0.20155
NM_001128225.3(SLC39A13):c.58A>G (p.Thr20Ala) rs61897432 0.11400
NM_080605.4(B3GALT6):c.522G>C (p.Glu174Asp) rs12085009 0.10007
NM_001128225.3(SLC39A13):c.83= (p.Glu28=) rs2010519 0.05174
NM_007255.3(B4GALT7):c.828+20T>C rs755873 0.02090
NM_001128225.3(SLC39A13):c.119G>A (p.Arg40Gln) rs35741412 0.01241
NM_007255.3(B4GALT7):c.413+12C>G rs77537553 0.01194
NM_007255.3(B4GALT7):c.297G>T (p.Val99=) rs114036939 0.01155
NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) rs142820961 0.00455
NM_001128225.3(SLC39A13):c.1037C>T (p.Pro346Leu) rs35978122 0.00270
NM_007255.3(B4GALT7):c.414-20G>A rs138092105 0.00252
NM_001128225.3(SLC39A13):c.216C>T (p.Leu72=) rs34986695 0.00211
NM_080605.4(B3GALT6):c.909G>A (p.Glu303=) rs368507303 0.00190
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_080605.4(B3GALT6):c.483G>A (p.Ala161=) rs373668725 0.00050
NM_080605.4(B3GALT6):c.485G>A (p.Arg162Gln) rs376811907 0.00045
NM_007255.3(B4GALT7):c.723+19C>T rs374080326 0.00028
NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys) rs777778007 0.00020
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=) rs150556863 0.00011
NM_007255.3(B4GALT7):c.432C>T (p.Leu144=) rs369974140 0.00006
NM_001128225.3(SLC39A13):c.930T>C (p.Ser310=) rs371311030 0.00003
NM_001128225.3(SLC39A13):c.1074G>A (p.Ala358=) rs576702857 0.00001
NM_001128225.3(SLC39A13):c.646-13C>T rs773526046 0.00001
NM_007255.3(B4GALT7):c.723+19del
NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg) rs867336520
NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup) rs1553151151

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