List of variants reported as pathogenic by Clinical Genetics, Erasmus University Medical Center

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 7q35-36.3(chr7:143839360-159138663)
GRCh37/hg19 Xp22.2(chrX:10299643-10638042)
NC_000016.9:g.86137629_86287477del
NC_000016.9:g.86144118_86289385del
NC_000016.9:g.86243180_87703229del
NM_003221.4(TFAP2B):c.602-5_606del	rs2113949539
NM_012134.3(LMOD1):c.1108C>T (p.Arg370Ter)	rs777696417
NM_020975.6(RET):c.1196C>T (p.Pro399Leu)	rs1554818362
NM_024769.3(CLMP):c.[29-2A>G];[410G>A]
NM_024769.5(CLMP):c.508C>T (p.Arg170Ter)	rs765907815
NM_053025.4(MYLK):c.3838_3844dup (p.Glu1282fs)	rs1553787823

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