ClinVar Miner

List of variants in gene TRMT1 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001136035.4(TRMT1):c.1833G>A (p.Glu611=) rs778368877 0.00004
NM_001136035.4(TRMT1):c.967C>T (p.Arg323Cys) rs542184779 0.00002
NM_001136035.4(TRMT1):c.1019+9G>C rs375881785
NM_001136035.4(TRMT1):c.1054G>A (p.Gly352Arg)
NM_001136035.4(TRMT1):c.1078G>A (p.Gly360Ser) rs753225455
NM_001136035.4(TRMT1):c.1106+26G>C rs35601737
NM_001136035.4(TRMT1):c.1161_1162del (p.Cys387fs)
NM_001136035.4(TRMT1):c.1332_1333del (p.Tyr445fs) rs1203487591
NM_001136035.4(TRMT1):c.1385T>C (p.Leu462Pro)
NM_001136035.4(TRMT1):c.1487G>A (p.Trp496Ter) rs2145578013
NM_001136035.4(TRMT1):c.1506+1G>T rs1568361011
NM_001136035.4(TRMT1):c.1534C>T (p.Arg512Ter) rs751298016
NM_001136035.4(TRMT1):c.1630C>T (p.Arg544Ter) rs763302328
NM_001136035.4(TRMT1):c.1639G>T (p.Gly547Ter)
NM_001136035.4(TRMT1):c.1834-7C>T
NM_001136035.4(TRMT1):c.21G>A (p.Trp7Ter) rs1357887994
NM_001136035.4(TRMT1):c.232C>T (p.Gln78Ter) rs2019344087
NM_001136035.4(TRMT1):c.24_33del (p.Leu10fs) rs750785552
NM_001136035.4(TRMT1):c.311-1G>A rs2019322057
NM_001136035.4(TRMT1):c.312del (p.Lys105fs) rs2019321826
NM_001136035.4(TRMT1):c.35del (p.Phe12fs)
NM_001136035.4(TRMT1):c.389_390del (p.Lys130fs) rs868289171
NM_001136035.4(TRMT1):c.458del (p.Gly153fs)
NM_001136035.4(TRMT1):c.583C>T (p.Arg195Trp) rs1006351159
NM_001136035.4(TRMT1):c.657_688del (p.Gln219fs) rs746572548
NM_001136035.4(TRMT1):c.814A>G (p.Thr272Ala) rs759911177

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