List of variants reported as pathogenic for autosomal anomaly by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_022455.5(NSD1):c.5740C>T (p.Arg1914Cys)	rs587784154	0.00001
GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)
GRCh37/hg19 17p11.2(chr17:16664739-20370783)
GRCh37/hg19 1q21.1-21.2(chr1:146465878-147416212)
GRCh37/hg19 7q11.23(chr7:72717395-74173168)
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)	rs104894621
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)	rs80338957
NM_001378414.1(HDAC4):c.743C>T (p.Pro248Leu)	rs1064797002
NM_002397.5(MEF2C):c.402+1G>A
NM_022455.5(NSD1):c.2137dup (p.Met713fs)	rs1581318949
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter)	rs886041218
NM_022455.5(NSD1):c.5824_5828del (p.Pro1942fs)	rs2127257484
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter)	rs587784173
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	rs587784177
NM_022455.5(NSD1):c.6358G>T (p.Glu2120Ter)	rs1581558015
NM_022455.5(NSD1):c.7988G>A (p.Trp2663Ter)

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