List of variants reported as likely pathogenic for Ehlers-Danlos syndrome, dermatosparaxis type by Labcorp Genetics (formerly Invitae), Labcorp

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_014244.5(ADAMTS2):c.2085+1G>T	rs1763059235	0.00002
NM_014244.5(ADAMTS2):c.688+1G>A	rs1182409555	0.00001
NM_014244.5(ADAMTS2):c.688+2T>C	rs1453785436	0.00001
NC_000005.9:g.(?_178548652)_(178700075_?)dup
NC_000005.9:g.(?_178554950)_(178564955_?)dup
NC_000005.9:g.(?_178585704)_(178700085_?)dup
NC_000005.9:g.(?_178699892)_(178700085_?)dup
NM_014244.5(ADAMTS2):c.1383-2A>G	rs1336175305
NM_014244.5(ADAMTS2):c.2457+1G>A	rs2113199896
NM_014244.5(ADAMTS2):c.2458-2A>G	rs1762893262
NM_014244.5(ADAMTS2):c.3179-1del
NM_014244.5(ADAMTS2):c.689-9_695del	rs2113374735
NM_014244.5(ADAMTS2):c.891+1G>A
NM_014244.5(ADAMTS2):c.891+2T>C

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