List of variants in gene TBCK reported as uncertain significance for hypotonia, infantile, with psychomotor retardation and characteristic facies 3

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_001163435.3(TBCK):c.1804G>A (p.Ala602Thr)	rs150221832	0.00008
NM_001163435.3(TBCK):c.2368A>G (p.Ser790Gly)	rs149002761	0.00005
NM_001163435.3(TBCK):c.2284C>T (p.Arg762Trp)	rs748323368	0.00003
NM_001163435.3(TBCK):c.2420G>C (p.Arg807Pro)	rs767308208	0.00003
NM_001163435.3(TBCK):c.2428A>G (p.Ile810Val)	rs775830620	0.00002
NM_001163435.3(TBCK):c.658+4A>G	rs745752734	0.00002
NM_001163435.3(TBCK):c.2159C>T (p.Ser720Phe)	rs370050799	0.00001
NM_001163435.3(TBCK):c.2370T>G (p.Ser790Arg)	rs1176913216	0.00001
NM_001163435.3(TBCK):c.60A>C (p.Pro20=)	rs775570874	0.00001
NM_001163435.3(TBCK):c.110A>T (p.Lys37Ile)	rs755840392
NM_001163435.3(TBCK):c.1162C>A (p.Leu388Ile)	rs773606670
NM_001163435.3(TBCK):c.1220+5G>A	rs1759516319
NM_001163435.3(TBCK):c.1322G>A (p.Arg441Lys)	rs1579346494
NM_001163435.3(TBCK):c.134T>G (p.Leu45Arg)
NM_001163435.3(TBCK):c.1381A>G (p.Lys461Glu)
NM_001163435.3(TBCK):c.1405C>G (p.Pro469Ala)
NM_001163435.3(TBCK):c.1588C>T (p.Arg530Cys)
NM_001163435.3(TBCK):c.1727_1728insGAAGTT (p.Lys576_Tyr577insLysLeu)
NM_001163435.3(TBCK):c.193+2dup
NM_001163435.3(TBCK):c.2088A>C (p.Glu696Asp)	rs1750972768
NM_001163435.3(TBCK):c.347C>T (p.Ala116Val)	rs2150100848
NM_001163435.3(TBCK):c.454G>C (p.Gly152Arg)	rs1762393554
NM_001163435.3(TBCK):c.783G>T (p.Arg261Ser)	rs1476004978

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