List of variants in gene RASA1 reported as pathogenic for cardiovascular disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_002890.3(RASA1):c.261_262del (p.Gly89fs)	rs1384480619	0.00001
NC_000005.9:g.(?_86564269)_(86564827_?)del
NC_000005.9:g.(?_86564269)_(86659341_?)del
NC_000005.9:g.(?_86564269)_(86686700_?)del
NC_000005.9:g.(?_86633771)_(86659341_?)del
NM_002890.2:c.540-406_692+21735del
NM_002890.3(RASA1):c.132_152delinsACAGCGAAACTCCATCTCTCAAAAAAAAAAAAAAAAAAAAAGAAGTCTACTAAAAACAGTTTTTTTTAACTACAATATCCTAAATATACCTAATTTAGTTATAAACTAGCATAAGACTAGATTCTTTCAGTATGAAAAGTT (p.Ala45_Gly51delinsGlnArgAsnSerIleSerGlnLysLysLysLysLysLysArgSerLeuLeuLysThrValPhePheAsnTyrAsnIleLeuAsnIleProAsnLeuValIleAsnTer)
NM_002890.3(RASA1):c.172_173del (p.Ala58fs)	rs2112222433
NM_002890.3(RASA1):c.365C>A (p.Ser122Ter)	rs1187087405
NM_002890.3(RASA1):c.383_384del (p.Leu128fs)
NM_002890.3(RASA1):c.402del (p.Pro136fs)
NM_002890.3(RASA1):c.426C>G (p.Tyr142Ter)
NM_002890.3(RASA1):c.434_451delinsA (p.Pro145fs)
NM_002890.3(RASA1):c.442dup (p.Ala148fs)	rs751951068
NM_002890.3(RASA1):c.474dup (p.Leu159fs)
NM_002890.3(RASA1):c.475_476del (p.Leu159fs)	rs797044451
NM_002890.3(RASA1):c.492C>A (p.Tyr164Ter)	rs1753698267
NM_002890.3(RASA1):c.496G>T (p.Glu166Ter)
NM_002890.3(RASA1):c.499del (p.Glu167fs)	rs2112223281
NM_002890.3(RASA1):c.538del (p.Gln180fs)	rs2112223340
NM_002890.3(RASA1):c.539+4A>G
NM_002890.3(RASA1):c.539+4dup
NM_002890.3(RASA1):c.78del (p.Ser27fs)

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