List of variants studied for Ehlers-Danlos syndrome by GeneReviews

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)	rs61735045	0.03116
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)	rs121913552	0.00002
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter)	rs121913550	0.00001
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)	rs72645347
NM_000093.5(COL5A1):c.4916G>C (p.Cys1639Ser)	rs80338764
NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln)	rs267606815
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=)	rs80338841
NM_001110556.2(FLNA):c.2228A>C (p.His743Pro)	rs2148115732
NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg)	rs267606816
NM_017946.4(FKBP14):c.143T>A (p.Met48Lys)	rs1583738267
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)	rs542489955
NM_017946.4(FKBP14):c.570AGA[1] (p.Glu191del)	rs1430849353

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