List of variants reported as pathogenic by Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001172509.2(SATB2):c.1826del (p.Asp609fs)	rs1574459072
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg)	rs876657400
NM_003079.5(SMARCE1):c.237+1G>T	rs1426841589
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)	rs796052676
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter)	rs1060503386
NM_014232.3(VAMP2):c.128_130del	rs1598265441
NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter)

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