List of variants reported as pathogenic for Senior-Loken syndrome 5 by Fulgent Genetics, Fulgent Genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)	rs121918244	0.00011
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)	rs387907009	0.00001
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)	rs373909351	0.00001
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)	rs201405662
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)	rs750962965
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)	rs745340459

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