ClinVar Miner

List of variants studied for connective tissue neoplasm by Sung Lab, Department of Medicine, Roswell Park Comprehensive Cancer Center

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_001018115.3(FANCD2):c.990-1G>A rs112832879 0.00005
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_001195427.2(SRSF2):c.284C>T (p.Pro95Leu)
NM_001754.5(RUNX1):c.1036dup (p.Arg346fs) rs1601333612
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_012433.4(SF3B1):c.1998G>C (p.Lys666Asn) rs377023736
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633

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