ClinVar Miner

List of variants in gene TRIP13 studied for chromosomal disorder

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004237.4(TRIP13):c.608+39T>G rs12518024 0.14537
NM_004237.4(TRIP13):c.712G>A (p.Asp238Asn) rs769856470 0.00002
NM_004237.4(TRIP13):c.1016T>C (p.Met339Thr)
NM_004237.4(TRIP13):c.1060C>T (p.Arg354Ter) rs376882637
NM_004237.4(TRIP13):c.258+48del rs66843001
NM_004237.4(TRIP13):c.673-1G>C rs1131692330
NM_004237.4(TRIP13):c.759+1G>T

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