List of variants in gene RNF213 reported as uncertain significance for Moyamoya disease 2

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: 41

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HGVS	dbSNP	gnomAD frequency
NM_001256071.3(RNF213):c.13195G>A (p.Ala4399Thr)	rs148731719	0.00799
NM_001256071.3(RNF213):c.5114C>A (p.Thr1705Lys)	rs147868237	0.00389
NM_001256071.3(RNF213):c.3404C>T (p.Ala1135Val)	rs201493500	0.00317
NM_001256071.3(RNF213):c.352T>C (p.Cys118Arg)	rs201620985	0.00187
NM_001256071.3(RNF213):c.5530G>A (p.Ala1844Thr)	rs545060242	0.00160
NM_001256071.3(RNF213):c.5162C>T (p.Pro1721Leu)	rs189765261	0.00109
NM_001256071.3(RNF213):c.397C>A (p.Leu133Met)	rs149177904	0.00099
NM_001256071.3(RNF213):c.626T>A (p.Ile209Asn)	rs144769597	0.00099
NM_001256071.3(RNF213):c.12055C>T (p.Arg4019Cys)	rs139265462	0.00061
NM_001256071.3(RNF213):c.15487G>A (p.Val5163Ile)	rs201733659	0.00018
NM_001256071.3(RNF213):c.4865C>T (p.Ala1622Val)	rs534665632	0.00018
NM_001256071.3(RNF213):c.14195A>C (p.Lys4732Thr)	rs148776624	0.00016
NM_001256071.3(RNF213):c.11765G>A (p.Arg3922Gln)	rs766292366	0.00004
NM_001256071.3(RNF213):c.13918G>A (p.Gly4640Ser)	rs138223459	0.00004
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)	rs112735431	0.00004
NM_001256071.3(RNF213):c.10063G>A (p.Glu3355Lys)	rs753076389	0.00003
NM_001256071.3(RNF213):c.1015C>T (p.Leu339Phe)	rs906213655	0.00002
NM_001256071.3(RNF213):c.11537G>A (p.Arg3846His)	rs1321156693	0.00002
NM_001256071.3(RNF213):c.12124G>A (p.Glu4042Lys)	rs1241745586	0.00002
NM_001256071.3(RNF213):c.12098C>T (p.Pro4033Leu)	rs778482758	0.00001
NM_001256071.3(RNF213):c.12226A>G (p.Ile4076Val)	rs746280089	0.00001
NM_001256071.3(RNF213):c.14729T>C (p.Val4910Ala)	rs1253832723	0.00001
NM_001256071.3(RNF213):c.1837G>T (p.Asp613Tyr)	rs1383472329	0.00001
NM_001256071.3(RNF213):c.11779G>A (p.Ala3927Thr)	rs777402744
NM_001256071.3(RNF213):c.11797G>A (p.Val3933Met)	rs1181813391
NM_001256071.3(RNF213):c.1184C>T (p.Pro395Leu)	rs1555645286
NM_001256071.3(RNF213):c.11990G>A (p.Cys3997Tyr)	rs797045189
NM_001256071.3(RNF213):c.11999G>A (p.Cys4000Tyr)
NM_001256071.3(RNF213):c.12022G>A (p.Val4008Ile)	rs762259446
NM_001256071.3(RNF213):c.12094T>C (p.Cys4032Arg)	rs1555675572
NM_001256071.3(RNF213):c.12152A>C (p.His4051Pro)	rs1555675612
NM_001256071.3(RNF213):c.12185G>A (p.Arg4062Gln)	rs1555676035
NM_001256071.3(RNF213):c.12365A>T (p.Asp4122Val)	rs1555676146
NM_001256071.3(RNF213):c.13062G>C (p.Lys4354Asn)	rs2144536464
NM_001256071.3(RNF213):c.13747C>T (p.Arg4583Trp)	rs1599190981
NM_001256071.3(RNF213):c.13822C>T (p.Pro4608Ser)	rs1356925198
NM_001256071.3(RNF213):c.13997C>T (p.Thr4666Ile)	rs2080083465
NM_001256071.3(RNF213):c.14850_14851insGGCAAACAGAGCGTGCAGCAG (p.Glu4950_Phe4951insGlyLysGlnSerValGlnGln)	rs797045188
NM_001256071.3(RNF213):c.15290C>T (p.Pro5097Leu)
NM_001256071.3(RNF213):c.1587_1589del (p.Ala531del)	rs797045186
NM_001256071.3(RNF213):c.2812-3C>G

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