ClinVar Miner

List of variants in gene combination CCNH, RASA1 reported as uncertain significance for Parkes Weber syndrome

Included ClinVar conditions (1):
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Total variants: 16
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HGVS dbSNP
NM_002890.3(RASA1):c.*1000_*1004GTTAA[1] rs886060850
NM_002890.3(RASA1):c.*16T>C rs770822619
NM_002890.3(RASA1):c.*298T>C rs886060846
NM_002890.3(RASA1):c.*424G>A rs191725379
NM_002890.3(RASA1):c.*448T>G rs886060847
NM_002890.3(RASA1):c.*572C>A rs886060848
NM_002890.3(RASA1):c.*840_*842ATT[1] rs201705926
NM_002890.3(RASA1):c.*9G>A rs886060845
NM_002890.3(RASA1):c.1305T>C (p.Tyr435=) rs778801311
NM_002890.3(RASA1):c.2011+4A>C rs886060840
NM_002890.3(RASA1):c.2049G>C (p.Gly683=) rs886060841
NM_002890.3(RASA1):c.2487+11A>C rs886060842
NM_002890.3(RASA1):c.2608T>C (p.Leu870=) rs372498033
NM_002890.3(RASA1):c.2926-14C>T rs886060843
NM_002890.3(RASA1):c.3029G>A (p.Arg1010Gln) rs886060844
NM_002890.3(RASA1):c.899+8A>G rs781285667

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