List of variants studied for cutis laxa, autosomal dominant 2

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_006329.4(FBLN5):c.945T>C (p.Ile315=)	rs2430347	0.76291
NM_006329.4(FBLN5):c.143C>T (p.Thr48Ile)	rs141200859	0.00026
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)	rs144288844	0.00019
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp)	rs28939073	0.00010
NM_006329.4(FBLN5):c.739+14G>A	rs1390709680	0.00002
NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp)	rs372650987	0.00001
NM_006329.4(FBLN5):c.245A>C (p.Asn82Thr)	rs759508064	0.00001
NM_006329.3(FBLN5):c.380-9061_873dup
NM_006329.4(FBLN5):c.1130C>T (p.Ala377Val)	rs1889226797
NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs)	rs1595286986
NM_006329.4(FBLN5):c.1307T>A (p.Val436Glu)	rs1453600644
NM_006329.4(FBLN5):c.422C>T (p.Thr141Ile)	rs1890163941

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