ClinVar Miner

List of variants in gene TRIP12 reported as pathogenic for not provided

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001348323.3(TRIP12):c.1599+2T>C rs1553639854
NM_001348323.3(TRIP12):c.1651C>T (p.Arg551Ter) rs1553636520
NM_001348323.3(TRIP12):c.1782_1806del (p.Glu595fs) rs1575409311
NM_001348323.3(TRIP12):c.1857del (p.Glu619fs) rs2154281369
NM_001348323.3(TRIP12):c.2683C>T (p.Arg895Ter) rs1195592039
NM_001348323.3(TRIP12):c.3247C>T (p.Arg1083Ter)
NM_001348323.3(TRIP12):c.3307+2T>C
NM_001348323.3(TRIP12):c.334C>T (p.Arg112Ter)
NM_001348323.3(TRIP12):c.3490dup (p.Ile1164fs) rs2043184881
NM_001348323.3(TRIP12):c.3500G>A (p.Trp1167Ter) rs2043183193
NM_001348323.3(TRIP12):c.3671_3672del (p.Val1223_Ser1224insTer) rs1553614300
NM_001348323.3(TRIP12):c.3757del (p.Asp1253fs) rs1575124128
NM_001348323.3(TRIP12):c.3779del (p.Arg1260fs) rs2154264222
NM_001348323.3(TRIP12):c.3787C>T (p.Arg1263Ter)
NM_001348323.3(TRIP12):c.3808del (p.Ser1270fs) rs2042881907
NM_001348323.3(TRIP12):c.3916C>T (p.Gln1306Ter) rs1575105918
NM_001348323.3(TRIP12):c.3968+1G>T rs1553612358
NM_001348323.3(TRIP12):c.4036C>T (p.Gln1346Ter) rs1553610240
NM_001348323.3(TRIP12):c.4076del (p.Gly1359fs) rs1575073974
NM_001348323.3(TRIP12):c.4695+1G>A rs2154257791
NM_001348323.3(TRIP12):c.4903C>T (p.Arg1635Ter) rs1574994308
NM_001348323.3(TRIP12):c.4904G>A (p.Arg1635Gln) rs2154255374
NM_001348323.3(TRIP12):c.4995+2T>C rs1064796861
NM_001348323.3(TRIP12):c.4995del (p.Lys1665fs) rs2154255332

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