List of variants reported as pathogenic for autosomal anomaly by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000501.4(ELN):c.1104_1105del (p.Ser369fs)	rs1794880739
NM_001002295.2(GATA3):c.733delinsCC (p.Thr245fs)	rs1832698457
NM_002397.5(MEF2C):c.965-2A>G	rs1759968705
NM_022455.5(NSD1):c.3172C>T (p.Gln1058Ter)	rs1763344725
NM_022455.5(NSD1):c.4055dup (p.Leu1352fs)	rs1765615038
NM_022455.5(NSD1):c.6426C>G (p.Tyr2142Ter)	rs1060501493
NM_144997.7(FLCN):c.49dup (p.Arg17fs)	rs758385503

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