ClinVar Miner

List of variants studied for connective tissue neoplasm by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.749G>A (p.Arg250His) rs771614642 0.00005
NM_001754.5(RUNX1):c.1219_1221delinsGGGATCGTTCGGA (p.Tyr407fs) rs2145875208
NM_001754.5(RUNX1):c.331A>C (p.Thr111Pro) rs1555899722
NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_001754.5(RUNX1):c.503G>T (p.Gly168Val) rs2057884016
NM_005188.4(CBL):c.2050C>T (p.Pro684Ser) rs587778154
NM_022552.5(DNMT3A):c.2666T>G (p.Leu889Arg)

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