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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001128225.3(SLC39A13):c.83A>G (p.Glu28Gly)	rs2010519	0.94826
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_001128225.3(SLC39A13):c.83= (p.Glu28=)	rs2010519	0.05174
NM_001128225.3(SLC39A13):c.119G>A (p.Arg40Gln)	rs35741412	0.01241
NM_001128225.3(SLC39A13):c.1037C>T (p.Pro346Leu)	rs35978122	0.00270
NM_001128225.3(SLC39A13):c.216C>T (p.Leu72=)	rs34986695	0.00211
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=)	rs150556863	0.00011
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

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