List of variants reported as likely pathogenic for Hepatic veno-occlusive disease-immunodeficiency syndrome

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_080424.4(SP110):c.1984C>T (p.Arg662Ter)	rs201059449	0.00003
NM_080424.4(SP110):c.1891C>T (p.Arg631Ter)	rs1011767398	0.00001
NC_000002.11:g.(231037676_231042253)_(231042397_231042872)del
NM_080424.4(SP110):c.1116_1119del (p.Arg373fs)	rs2148850717
NM_080424.4(SP110):c.1130-1G>C
NM_080424.4(SP110):c.1349-2A>T
NM_080424.4(SP110):c.1766_1767del (p.His589fs)
NM_080424.4(SP110):c.1888-2A>G
NM_080424.4(SP110):c.877A>T (p.Lys293Ter)	rs199845488

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