ClinVar Miner

List of variants in gene TBCK reported as likely pathogenic for not provided

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001163435.3(TBCK):c.1108C>T (p.Arg370Ter) rs1452578209 0.00001
NM_001163435.3(TBCK):c.1220+1G>A rs760715215 0.00001
NM_001163435.3(TBCK):c.266+2T>G rs1174436721 0.00001
NM_001163435.3(TBCK):c.720+1G>A rs925343986 0.00001
NC_000004.11:g.(?_107110358)_(107171624_?)del
NC_000004.11:g.(?_107110361)_(107171624_?)del
NC_000004.11:g.(?_107114746)_(107183389_?)dup
NC_000004.11:g.(?_107181574)_(107216343_?)dup
NM_001163435.3(TBCK):c.1071-1G>C rs1311326943
NM_001163435.3(TBCK):c.1170+1G>T
NM_001163435.3(TBCK):c.1351-1G>A rs1759337270
NM_001163435.3(TBCK):c.1370dup (p.Asn457fs) rs746860249
NM_001163435.3(TBCK):c.1398_1399insTTAA (p.Ile467fs) rs1579342363
NM_001163435.3(TBCK):c.1740CTT[2] (p.Phe582del) rs909658169
NM_001163435.3(TBCK):c.1771C>T (p.Gln591Ter) rs1057518332
NM_001163435.3(TBCK):c.1775-1G>C
NM_001163435.3(TBCK):c.1861-7C>G
NM_001163435.3(TBCK):c.1898-2A>G
NM_001163435.3(TBCK):c.1975G>A (p.Gly659Arg)
NM_001163435.3(TBCK):c.2044_2048del (p.Phe682fs) rs778000956
NM_001163435.3(TBCK):c.2235+1G>A
NM_001163435.3(TBCK):c.2512C>T (p.Gln838Ter) rs1740799305
NM_001163435.3(TBCK):c.304C>T (p.Gln102Ter) rs1330115613
NM_001163435.3(TBCK):c.381+1G>A rs1762560983
NM_001163435.3(TBCK):c.721-2A>G
NM_001163435.3(TBCK):c.932-2A>C

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