List of variants studied for cutis laxa by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)	rs72653706	0.00122
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)	rs368622356	0.00010
NM_006329.4(FBLN5):c.739+14G>A	rs1390709680	0.00002
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His)	rs752669339	0.00001
NM_000052.7(ATP7A):c.1544-2A>T	rs2077751404
NM_000052.7(ATP7A):c.1555A>T (p.Ile519Leu)	rs1234971496
NM_000052.7(ATP7A):c.2917-13C>A	rs1343084607
NM_000052.7(ATP7A):c.4469dup (p.Asp1491fs)	rs2078084722
NM_000093.5(COL5A1):c.2903del (p.Pro968fs)	rs1057518871
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)	rs140574574
NM_001690.4(ATP6V1A):c.1227-6A>G	rs1709148623
NM_001690.4(ATP6V1A):c.1531G>C (p.Val511Leu)	rs1709239976
NM_002860.4(ALDH18A1):c.1990C>T (p.Leu664Phe)	rs2097834101
NM_002860.4(ALDH18A1):c.2159T>C (p.Phe720Ser)	rs2097831271
NM_002860.4(ALDH18A1):c.89-6C>G	rs2097895286
NM_006329.4(FBLN5):c.1130C>T (p.Ala377Val)	rs1889226797
NM_152281.3(GORAB):c.61G>T (p.Asp21Tyr)	rs1648727549

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