List of variants studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_001197104.2(KMT2A):c.883_886del (p.Lys295fs)	rs1949951871
NM_001272071.2(AP1S2):c.321_334del (p.Glu107fs)	rs1933972061
NM_001282531.3(ADNP):c.2468T>G (p.Leu823Trp)
NM_001347721.2(DYRK1A):c.489+2T>C	rs2052613493
NM_001374828.1(ARID1B):c.1811del (p.Met604fs)
NM_003403.5(YY1):c.1057T>C (p.Phe353Leu)
NM_003482.4(KMT2D):c.8845dup (p.Thr2949fs)	rs2120499187
NM_004187.5(KDM5C):c.3845_3846del (p.Thr1282fs)
NM_005445.4(SMC3):c.1861A>T (p.Lys621Ter)
NM_005629.4(SLC6A8):c.1418T>C (p.Phe473Ser)	rs2148364186
NM_007118.4(TRIO):c.5912+3A>G
NM_015100.4(POGZ):c.62del (p.Ile21fs)	rs1660633733
NM_015100.4(POGZ):c.64del (p.Ser22fs)	rs2102370816
NM_015100.4(POGZ):c.692del (p.Ile231fs)	rs1658105150
NM_015570.4(AUTS2):c.1995_1996del (p.Lys666fs)	rs2129559195
NM_017934.7(PHIP):c.1546G>A (p.Ala516Thr)
NM_020699.4(GATAD2B):c.117_127del (p.Met40fs)
NM_152564.5(VPS13B):c.5350dup (p.Glu1784fs)	rs1829386213
NM_170606.3(KMT2C):c.6938_6939del (p.Phe2313fs)	rs2129119362

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