List of variants studied for cutis laxa by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln)	rs748925635	0.00001
NM_006907.4(PYCR1):c.755C>T (p.Ser252Phe)	rs767581950	0.00001
NM_000052.7(ATP7A):c.1946+1G>T	rs797045340
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp)	rs1028534806
NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser)	rs774047299

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