ClinVar Miner

List of variants in gene RASA1 reported as pathogenic for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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NM_002890.3(RASA1):c.172_173del (p.Ala58fs)
NM_002890.3(RASA1):c.261_262del (p.Gly89fs) rs1384480619
NM_002890.3(RASA1):c.365C>A (p.Ser122Ter)
NM_002890.3(RASA1):c.442dup (p.Ala148fs)
NM_002890.3(RASA1):c.475_476del (p.Leu159fs) rs797044451
NM_002890.3(RASA1):c.492C>A (p.Tyr164Ter)
NM_002890.3(RASA1):c.499del (p.Glu167fs)

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