ClinVar Miner

List of variants in gene combination CCNH, RASA1 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter) rs1204340475 0.00001
NM_002890.3(RASA1):c.2333dup (p.Ser779fs) rs1347210621 0.00001
NM_002890.3(RASA1):c.2365C>T (p.Arg789Ter) rs1463885690 0.00001
NM_001364075.2(CCNH):c.934-28498_934-28494del
NM_002890.2(RASA1):c.1513A[3](p.Ile505Lysfs) rs1554048061
NM_002890.3(RASA1):c.1052G>A (p.Trp351Ter) rs1758886343
NM_002890.3(RASA1):c.1053G>A (p.Trp351Ter)
NM_002890.3(RASA1):c.1134del (p.Ser379fs)
NM_002890.3(RASA1):c.1164_1165del (p.Tyr389fs) rs1759087658
NM_002890.3(RASA1):c.1192C>T (p.Arg398Ter) rs1210180190
NM_002890.3(RASA1):c.1220_1223del (p.Asn407fs)
NM_002890.3(RASA1):c.1222C>T (p.Gln408Ter) rs1759093156
NM_002890.3(RASA1):c.1248T>G (p.Tyr416Ter) rs1561300506
NM_002890.3(RASA1):c.1257dup (p.Gly420fs) rs1759404954
NM_002890.3(RASA1):c.1279C>T (p.Arg427Ter) rs975191415
NM_002890.3(RASA1):c.1319del (p.Pro440fs) rs2112431809
NM_002890.3(RASA1):c.1332+2T>G rs1759410564
NM_002890.3(RASA1):c.1336C>T (p.Gln446Ter) rs2112456363
NM_002890.3(RASA1):c.1339_1352del (p.Gln446_Glu447insTer)
NM_002890.3(RASA1):c.1358_1359del (p.Thr453fs) rs1060503439
NM_002890.3(RASA1):c.1429A>T (p.Lys477Ter)
NM_002890.3(RASA1):c.1534C>T (p.Arg512Ter) rs1554048066
NM_002890.3(RASA1):c.1556T>G (p.Leu519Ter)
NM_002890.3(RASA1):c.1561_1562dup (p.Asp521fs)
NM_002890.3(RASA1):c.1577del (p.Ser526fs)
NM_002890.3(RASA1):c.1579_1582del (p.Val527fs) rs1760265136
NM_002890.3(RASA1):c.1659C>A (p.Tyr553Ter) rs747745016
NM_002890.3(RASA1):c.1795delinsGTAAA (p.His599fs) rs1761153296
NM_002890.3(RASA1):c.1916C>G (p.Ser639Ter)
NM_002890.3(RASA1):c.1926dup (p.Val643fs) rs2112485022
NM_002890.3(RASA1):c.1932dup (p.Asp645Ter)
NM_002890.3(RASA1):c.1934+2T>G rs1761160392
NM_002890.3(RASA1):c.1984_1988del (p.Thr662fs) rs2112486996
NM_002890.3(RASA1):c.1990_1994del (p.Lys664fs)
NM_002890.3(RASA1):c.2035C>T (p.Arg679Ter) rs1554049394
NM_002890.3(RASA1):c.2125C>T (p.Arg709Ter) rs1554049422
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) rs863223718
NM_002890.3(RASA1):c.2136C>G (p.Tyr712Ter)
NM_002890.3(RASA1):c.2149dup (p.Ile717fs) rs1561322357
NM_002890.3(RASA1):c.2182G>T (p.Glu728Ter) rs1761341113
NM_002890.3(RASA1):c.2325_2326del (p.Asp775fs)
NM_002890.3(RASA1):c.2329_2330del (p.Glu777fs) rs2112492304
NM_002890.3(RASA1):c.2388del (p.Thr796_Leu797insTer)
NM_002890.3(RASA1):c.2390del (p.Thr796_Leu797insTer) rs2112495582
NM_002890.3(RASA1):c.2402dup (p.Tyr801Ter) rs1761469547
NM_002890.3(RASA1):c.2422_2423del (p.Gln808fs) rs2112495617
NM_002890.3(RASA1):c.2451dup (p.Ile818fs) rs1761473113
NM_002890.3(RASA1):c.2500_2501del (p.Lys834fs)
NM_002890.3(RASA1):c.2529dup (p.Asn844Ter) rs878854569
NM_002890.3(RASA1):c.2534_2535insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGTGAACACTAATTT (p.Leu845delinsPhePhePhePhePhePhePheXaaXaaXaaXaaPheTer)
NM_002890.3(RASA1):c.2557dup (p.Ser853fs) rs1554049825
NM_002890.3(RASA1):c.2603+1G>A rs983011713
NM_002890.3(RASA1):c.2620dup (p.Tyr874fs)
NM_002890.3(RASA1):c.2625del (p.Cys876fs)
NM_002890.3(RASA1):c.2648_2655del (p.His883fs) rs2112500780
NM_002890.3(RASA1):c.2698_2701del (p.Val900fs) rs886041232
NM_002890.3(RASA1):c.2707C>T (p.Arg903Ter) rs1554050230
NM_002890.3(RASA1):c.2724del (p.Ile909fs)
NM_002890.3(RASA1):c.2795dup (p.Leu932fs)
NM_002890.3(RASA1):c.2810_2811del (p.Val937fs) rs1761994695
NM_002890.3(RASA1):c.2866_2867del (p.Val956fs) rs1561331089
NM_002890.3(RASA1):c.2873del (p.Pro958fs) rs1554050584
NM_002890.3(RASA1):c.2891_2894del (p.Lys964fs) rs2112517213
NM_002890.3(RASA1):c.2909_2913dup (p.Asp972delinsPheTer) rs878854570
NM_002890.3(RASA1):c.2920del (p.Asn976fs) rs2112517308
NM_002890.3(RASA1):c.2926-14C>G
NM_002890.3(RASA1):c.2942del (p.Pro981fs)
NM_002890.3(RASA1):c.2968del (p.Asp990fs)
NM_002890.3(RASA1):c.3020_3021insATGA (p.Asp1007delinsGluTer)
NM_002890.3(RASA1):c.3028C>T (p.Arg1010Ter) rs1762317272
NM_002890.3(RASA1):c.3043G>T (p.Glu1015Ter) rs1561333645
NM_002890.3(RASA1):c.3050del (p.Gly1017fs) rs2112525375
NM_002890.3(RASA1):c.3091del (p.Glu1031fs)
NM_002890.3(RASA1):c.578_581dup (p.Leu195fs) rs1757588488
NM_002890.3(RASA1):c.583del (p.Leu195fs)
NM_002890.3(RASA1):c.611dup (p.Tyr204Ter)
NM_002890.3(RASA1):c.613_617del (p.Leu205fs) rs1060503441
NM_002890.3(RASA1):c.617_621del (p.Ile206fs) rs2112366112
NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) rs1554044823
NM_002890.3(RASA1):c.806_810del (p.Leu269fs)
NM_002890.3(RASA1):c.828+5G>T rs2112369561
NM_002890.3(RASA1):c.841A>T (p.Arg281Ter)
NM_002890.3(RASA1):c.853C>T (p.Arg285Ter) rs137853218
NM_002890.3(RASA1):c.902dup (p.Gly304fs)
NM_002890.3(RASA1):c.957G>A (p.Trp319Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.