List of variants reported as likely pathogenic by Institute of Bioinformatics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001081550.2(THOC2):c.1942G>T (p.Ala648Ser)	rs2047665750
NM_001379451.1(BCORL1):c.3793C>T (p.Arg1265Cys)	rs1464137864
NM_001384125.1(BLTP1):c.2431A>G (p.Thr811Ala)	rs1753117321
NM_018294.6(CWF19L1):c.452T>G (p.Ile151Ser)
NM_031407.7(HUWE1):c.145-2A>G	rs1569509136

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