List of variants in gene SLX4 reported as pathogenic for inherited aplastic anemia

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: 106

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs)	rs748930384	0.00003
NM_032444.4(SLX4):c.1163+2T>A	rs773642409	0.00001
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter)	rs1265030199	0.00001
NM_032444.4(SLX4):c.1538G>A (p.Trp513Ter)	rs761314760	0.00001
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter)	rs760126773	0.00001
NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter)	rs1267428175	0.00001
NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter)	rs200715208	0.00001
NM_032444.4(SLX4):c.2808_2809del (p.Ala938fs)	rs767631456	0.00001
NM_032444.4(SLX4):c.3895_3896del (p.Arg1299fs)	rs763914156	0.00001
NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter)	rs1291935778	0.00001
NM_032444.4(SLX4):c.860del (p.Ser287fs)	rs752720263	0.00001
NC_000016.10:g.(?_3606464)_(3608974_?)del
NC_000016.10:g.(?_3608430)_(3609566_?)del
NC_000016.9:g.(?_3632343)_(3633531_?)del
NC_000016.9:g.(?_3632343)_(3658965_?)del
NC_000016.9:g.(?_3634760)_(3634882_?)del
NC_000016.9:g.(?_3658425)_(3658971_?)del
NM_032444.4(SLX4):c.100C>T (p.Gln34Ter)
NM_032444.4(SLX4):c.1029del (p.Thr345fs)
NM_032444.4(SLX4):c.1037T>G (p.Leu346Ter)
NM_032444.4(SLX4):c.106G>T (p.Glu36Ter)
NM_032444.4(SLX4):c.1093del (p.Gln365fs)	rs1218169126
NM_032444.4(SLX4):c.1129C>T (p.Gln377Ter)	rs1171341642
NM_032444.4(SLX4):c.1163+2dup	rs2040719850
NM_032444.4(SLX4):c.1163+3dup	rs2040719776
NM_032444.4(SLX4):c.1255G>T (p.Glu419Ter)
NM_032444.4(SLX4):c.1367-2A>G	rs2040679706
NM_032444.4(SLX4):c.1406dup (p.Leu470fs)
NM_032444.4(SLX4):c.1533del (p.Trp513fs)
NM_032444.4(SLX4):c.1540G>T (p.Glu514Ter)
NM_032444.4(SLX4):c.1552C>T (p.Gln518Ter)
NM_032444.4(SLX4):c.157_158insTA (p.Glu53fs)
NM_032444.4(SLX4):c.1731dup (p.Glu578fs)
NM_032444.4(SLX4):c.1816C>T (p.Gln606Ter)
NM_032444.4(SLX4):c.1868del (p.Leu623fs)
NM_032444.4(SLX4):c.1880_1887del (p.Pro627fs)	rs1266198754
NM_032444.4(SLX4):c.1912G>T (p.Glu638Ter)
NM_032444.4(SLX4):c.1957_1960del (p.Thr653fs)
NM_032444.4(SLX4):c.1991dup (p.Asp665fs)
NM_032444.4(SLX4):c.19G>T (p.Glu7Ter)
NM_032444.4(SLX4):c.2013+225_3147delinsCC
NM_032444.4(SLX4):c.2039_2105dup (p.Leu703_Tyr704insTrpArgHisGlyGlnTerLeu)
NM_032444.4(SLX4):c.2102del (p.Glu701fs)
NM_032444.4(SLX4):c.2264del (p.Leu755fs)
NM_032444.4(SLX4):c.2384C>G (p.Ser795Ter)	rs2151126006
NM_032444.4(SLX4):c.2449del (p.Glu817fs)	rs1567170994
NM_032444.4(SLX4):c.2565T>A (p.Tyr855Ter)
NM_032444.4(SLX4):c.2594_2595del (p.Leu865fs)
NM_032444.4(SLX4):c.2635_2636insA (p.Trp879Ter)	rs2151125489
NM_032444.4(SLX4):c.2699G>A (p.Trp900Ter)
NM_032444.4(SLX4):c.2793_2805del (p.Gln934fs)
NM_032444.4(SLX4):c.2800del (p.Gln934fs)
NM_032444.4(SLX4):c.286del (p.Thr96fs)	rs1596534281
NM_032444.4(SLX4):c.2974_2977del (p.Gly992fs)	rs2151124655
NM_032444.4(SLX4):c.307del (p.Leu103fs)
NM_032444.4(SLX4):c.3144_3148del (p.His1050fs)
NM_032444.4(SLX4):c.3239C>G (p.Ser1080Ter)	rs2151123968
NM_032444.4(SLX4):c.3282del (p.Glu1094fs)	rs2151123906
NM_032444.4(SLX4):c.3529G>T (p.Glu1177Ter)
NM_032444.4(SLX4):c.3619_3643del (p.Pro1207fs)	rs1440022090
NM_032444.4(SLX4):c.3646C>T (p.Gln1216Ter)
NM_032444.4(SLX4):c.3724G>T (p.Glu1242Ter)	rs770687847
NM_032444.4(SLX4):c.3726_3729del (p.Ser1243fs)	rs878855162
NM_032444.4(SLX4):c.3731del (p.Ser1244fs)
NM_032444.4(SLX4):c.383G>A (p.Trp128Ter)	rs1193906930
NM_032444.4(SLX4):c.3906del (p.Asn1302fs)
NM_032444.4(SLX4):c.3916C>T (p.Gln1306Ter)	rs2040557100
NM_032444.4(SLX4):c.3955C>T (p.Gln1319Ter)	rs2040556390
NM_032444.4(SLX4):c.3961_3962dup (p.Ser1322fs)
NM_032444.4(SLX4):c.3983_4115del (p.Val1328fs)	rs2151122078
NM_032444.4(SLX4):c.39C>G (p.Tyr13Ter)
NM_032444.4(SLX4):c.4024del (p.Ser1342fs)
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter)	rs1596520443
NM_032444.4(SLX4):c.4133del (p.Pro1378fs)	rs1174332682
NM_032444.4(SLX4):c.4156C>T (p.Gln1386Ter)	rs1374549534
NM_032444.4(SLX4):c.4241del (p.Pro1414fs)
NM_032444.4(SLX4):c.4258_4259dup (p.Ile1421fs)	rs781663547
NM_032444.4(SLX4):c.4259dup (p.Ile1421fs)	rs781663547
NM_032444.4(SLX4):c.425del (p.Gly142fs)	rs757662453
NM_032444.4(SLX4):c.4283G>A (p.Trp1428Ter)	rs1028935047
NM_032444.4(SLX4):c.4291G>T (p.Glu1431Ter)
NM_032444.4(SLX4):c.4336_4340del (p.Thr1446fs)
NM_032444.4(SLX4):c.4381_4391del (p.Ala1461fs)	rs751653739
NM_032444.4(SLX4):c.4391_4403del (p.Ser1464fs)	rs1596519879
NM_032444.4(SLX4):c.4405del (p.Ser1469fs)	rs1596519854
NM_032444.4(SLX4):c.4435C>T (p.Arg1479Ter)
NM_032444.4(SLX4):c.4523C>A (p.Ser1508Ter)
NM_032444.4(SLX4):c.4549G>T (p.Glu1517Ter)
NM_032444.4(SLX4):c.4625T>A (p.Leu1542Ter)	rs2040540029
NM_032444.4(SLX4):c.4668del (p.Val1558fs)
NM_032444.4(SLX4):c.4668dup (p.Lys1557fs)
NM_032444.4(SLX4):c.4693dup (p.Gln1565fs)
NM_032444.4(SLX4):c.4761dup (p.Lys1588Ter)
NM_032444.4(SLX4):c.4764del (p.Lys1588fs)	rs1567166655
NM_032444.4(SLX4):c.4798C>T (p.Gln1600Ter)	rs143026968
NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter)	rs200628199
NM_032444.4(SLX4):c.4837G>T (p.Glu1613Ter)	rs761469284
NM_032444.4(SLX4):c.4850C>G (p.Ser1617Ter)
NM_032444.4(SLX4):c.4862del (p.Leu1621fs)	rs1567166544
NM_032444.4(SLX4):c.4921dup (p.Val1641fs)	rs770425994
NM_032444.4(SLX4):c.5055_5058dup (p.Pro1687fs)	rs2151116570
NM_032444.4(SLX4):c.514del (p.Leu172fs)	rs1567178071
NM_032444.4(SLX4):c.559C>T (p.Gln187Ter)	rs2040788600
NM_032444.4(SLX4):c.59del (p.Leu20fs)	rs1315905872
NM_032444.4(SLX4):c.619_623dup (p.Leu208fs)
NM_032444.4(SLX4):c.86_89del (p.Arg29fs)	rs2151139911

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.