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

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter)	rs575822089	0.00023
NM_001163435.3(TBCK):c.2060-2A>G	rs62321379	0.00005
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter)	rs376699648	0.00003
NM_001163435.3(TBCK):c.1897+1G>A	rs374319146	0.00002
GRCh37/hg19 4q24(chr4:107092252-107092428)
GRCh38/hg38 4q24(chr4:106170998-106171368)x0
NC_000004.12:g.106168703_106217941del
NM_001163435.3(TBCK):c.1370del (p.Asn457fs)	rs746860249
NM_001163435.3(TBCK):c.1370dup (p.Asn457fs)	rs746860249
NM_001163435.3(TBCK):c.1532G>A (p.Arg511His)	rs869320711
NM_001163435.3(TBCK):c.1771C>T (p.Gln591Ter)	rs1057518332
NM_001163435.3(TBCK):c.1860+1G>A	rs1303851095
NM_001163435.3(TBCK):c.1878G>T (p.Trp626Cys)	rs1579198447
NM_001163435.3(TBCK):c.1880T>G (p.Phe627Cys)	rs1579198426
NM_001163435.3(TBCK):c.193+1G>T	rs1767828321
NM_001163435.3(TBCK):c.2060-6793_2235+427del
NM_001163435.3(TBCK):c.2060_2235+1del	rs1560755661
NM_001163435.3(TBCK):c.2060_2235del (p.Glu687fs)	rs2149737591
NM_001163435.3(TBCK):c.2130C>G (p.Tyr710Ter)	rs1750962854
NM_001163435.3(TBCK):c.2143C>T (p.Gln715Ter)	rs1750958862
NM_001163435.3(TBCK):c.381+1G>A	rs1762560983
NM_001163435.3(TBCK):c.658+1G>A	rs1579395680
NM_001163435.3(TBCK):c.659-1G>A	rs1579391376
NM_001163435.3(TBCK):c.737_738del (p.Val246fs)	rs2150053706
NM_001163435.3(TBCK):c.753dup (p.Lys252Ter)	rs1131691329
NM_001163435.3(TBCK):c.803_806del (p.Met268fs)	rs771481304
NM_001163435.3(TBCK):c.831_832insTA (p.Pro278fs)	rs869320769

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