ClinVar Miner

List of variants reported as likely pathogenic for connective and soft tissue neoplasm by Baylor Genetics

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.1064del (p.Ile355fs)
NM_003072.5(SMARCA4):c.1408C>T (p.Gln470Ter) rs1555757738
NM_003072.5(SMARCA4):c.1752_1755del (p.Lys585fs) rs2087041072
NM_003072.5(SMARCA4):c.2062A>T (p.Lys688Ter)
NM_003072.5(SMARCA4):c.229G>T (p.Glu77Ter) rs1568419675
NM_003072.5(SMARCA4):c.3774+2T>G
NM_015922.3(NSDHL):c.387del (p.Ile129fs)
NM_058172.6(ANTXR2):c.241T>C (p.Ser81Pro) rs797045029

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