ClinVar Miner

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

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 96
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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.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.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.2013+225_3147delinsCC
NM_032444.4(SLX4):c.2039_2105dup (p.Leu703_Tyr704insTrpArgHisGlyGlnTerLeu)
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.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.4258_4259dup (p.Ile1421fs) rs781663547
NM_032444.4(SLX4):c.4259dup (p.Ile1421fs) rs781663547
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.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

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