List of variants reported as pathogenic for not specified by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	rs371898076	0.00005
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)	rs121913293	0.00001
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)	rs199472807
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del)	rs397508127
NM_000314.8(PTEN):c.70G>C (p.Asp24His)	rs786201995
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	rs587776829
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln)	rs199473368

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