List of variants reported as likely pathogenic for hypotonia, infantile, with psychomotor retardation and characteristic facies 3

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001163435.3(TBCK):c.2060-2A>G	rs62321379	0.00005
NM_001163435.3(TBCK):c.2159C>T (p.Ser720Phe)	rs370050799	0.00001
NM_001163435.3(TBCK):c.389T>A (p.Ile130Asn)	rs1213724402	0.00001
NM_001163435.3(TBCK):c.456-2A>G	rs780527809	0.00001
NM_001163435.2(TBCK):c.2060-9050_2235+26133del
NM_001163435.3(TBCK):c.1170+1G>A	rs765407874
NM_001163435.3(TBCK):c.1259T>A (p.Leu420Ter)	rs2150010400
NM_001163435.3(TBCK):c.1351-1G>A	rs1759337270
NM_001163435.3(TBCK):c.1584dup (p.Arg529Ter)	rs1759036277
NM_001163435.3(TBCK):c.1854del (p.Pro619fs)	rs1579257340
NM_001163435.3(TBCK):c.1860+2T>A
NM_001163435.3(TBCK):c.1888_1889del (p.Met630fs)
NM_001163435.3(TBCK):c.360_363del (p.His120fs)	rs1560929669
NM_001163435.3(TBCK):c.468C>G (p.Tyr156Ter)
NM_001163435.3(TBCK):c.531dup (p.Pro178fs)	rs1560911619
NM_001163435.3(TBCK):c.557A>G (p.Asp186Gly)	rs2150065916
NM_001163435.3(TBCK):c.677T>A (p.Leu226Ter)	rs758167759

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