ClinVar Miner

List of variants reported as likely pathogenic for Rhabdomyosarcoma (disease)

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Total variants: 9
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NM_000546.5(TP53):c.560-1G>C rs1202793339
NM_001042492.3(NF1):c.3520C>T (p.Gln1174Ter)
NM_003001.5(SDHC):c.386G>A (p.Trp129Ter)
NM_004304.5(ALK):c.4298_4299del (p.Glu1433fs)
NM_005188.4(CBL):c.1495C>T (p.Arg499Ter)
NM_213647.3(FGFR4):c.1605C>A (p.Asn535Lys) rs1057519792
NM_213647.3(FGFR4):c.1605C>G (p.Asn535Lys) rs1057519792
NM_213647.3(FGFR4):c.1649T>A (p.Val550Glu) rs1057519793

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