List of variants reported as benign for Ehlers-Danlos syndrome type 7A

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.-247T>G	rs71483234	0.99656
NM_000093.5(COL5A1):c.*2395G>T	rs4504708	0.76943
NM_000093.5(COL5A1):c.*83C>T	rs13946	0.76018
NM_000093.5(COL5A1):c.*1125A>T	rs1134170	0.66610
NM_000093.5(COL5A1):c.*2501T>C	rs3128575	0.63348
NM_000093.5(COL5A1):c.1432-5T>C	rs3128612	0.57159
NM_000093.5(COL5A1):c.2952+11A>T	rs4240707	0.51337
NM_000093.5(COL5A1):c.*267C>T	rs12722	0.43648
NM_000093.5(COL5A1):c.738C>T (p.Thr246=)	rs3124299	0.34823
NM_000093.5(COL5A1):c.4176+9T>G	rs10858282	0.31743
NM_000093.5(COL5A1):c.*894T>C	rs11103544	0.20603
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=)	rs41306391	0.08110
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=)	rs61729545	0.06122
NM_000093.5(COL5A1):c.*1086ATCT[1]	rs16399
NM_000093.5(COL5A1):c.*733C>A	rs3196378
NM_000093.5(COL5A1):c.870_873dup	rs10628678
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=)	rs2228560

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