ClinVar Miner

List of variants in gene combination CCNH, RASA1 reported as likely benign for complex vascular malformation with associated anomalies

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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NM_002890.3(RASA1):c.*375T>C rs116868431
NM_002890.3(RASA1):c.*424G>T rs191725379
NM_002890.3(RASA1):c.*476T>G rs543819845
NM_002890.3(RASA1):c.*543A>G rs183575968
NM_002890.3(RASA1):c.*733_*735ATT[1] rs374889193
NM_002890.3(RASA1):c.*818T>C rs192141756
NM_002890.3(RASA1):c.*852A>G rs182603054
NM_002890.3(RASA1):c.*97A>G rs115086172
NM_002890.3(RASA1):c.1102+10T>C rs150779406
NM_002890.3(RASA1):c.1371G>A (p.Lys457=) rs140707293
NM_002890.3(RASA1):c.1394G>A (p.Arg465His) rs181630831
NM_002890.3(RASA1):c.1494G>A (p.Glu498=) rs200197533
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649
NM_002890.3(RASA1):c.2259C>T (p.Ala753=) rs552498036
NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn) rs184201084
NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu) rs138785106
NM_002890.3(RASA1):c.2691-11C>T rs149730288
NM_002890.3(RASA1):c.612T>C (p.Tyr204=) rs377014568
NM_002890.3(RASA1):c.829-12T>A rs187379673

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