List of variants reported as likely benign for Ehlers-Danlos syndrome, arthrochalasia type

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1615-4C>A	rs41316657	0.00846
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=)	rs34940368	0.00563
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)	rs72667032	0.00331
NM_000088.4(COL1A1):c.1984-5C>A	rs66592376	0.00249
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala)	rs767525556	0.00013
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile)	rs138557594	0.00009
NM_000088.4(COL1A1):c.*21G>C	rs201085309	0.00006
NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr)	rs769571473	0.00006
NM_000088.4(COL1A1):c.528C>T (p.Ser176=)	rs748856187	0.00006
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His)	rs781491172	0.00004
NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala)	rs766461654	0.00001
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys)	rs746671446	0.00001
NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met)	rs763025405	0.00001
NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile)	rs367952133	0.00001
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser)	rs72648327
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly)	rs775095655

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