ClinVar Miner

List of variants in gene combination CCNH, RASA1 reported as benign for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_002890.3(RASA1):c.*1001T>C
NM_002890.3(RASA1):c.*164A>G
NM_002890.3(RASA1):c.1102+10T>C rs150779406
NM_002890.3(RASA1):c.1332+8T>C rs376637789
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.1777-14T>A rs36000817
NM_002890.3(RASA1):c.1777-15_1777-14insA rs202147617
NM_002890.3(RASA1):c.1968A>T (p.Ile656=) rs370819852
NM_002890.3(RASA1):c.2259C>T (p.Ala753=) rs552498036
NM_002890.3(RASA1):c.2286C>T (p.His762=) rs373059169
NM_002890.3(RASA1):c.2288A>T (p.Glu763Val) rs373098580
NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn) rs184201084
NM_002890.3(RASA1):c.3067T>C (p.Leu1023=) rs3747704
NM_002890.3(RASA1):c.612T>C (p.Tyr204=) rs377014568
NM_002890.3(RASA1):c.829-12T>A rs187379673

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