ClinVar Miner

List of variants in gene SLX4 reported as pathogenic for anemia (disease)

Included ClinVar conditions (281):
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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NC_000016.10:g.(?_3606464)_(3608974_?)del
NC_000016.10:g.(?_3608430)_(3609566_?)del
NC_000016.10:g.3590491_3595380delinsGG
NM_032444.4(SLX4):c.1093del (p.Gln365fs) rs1218169126
NM_032444.4(SLX4):c.1163+2T>A rs773642409
NM_032444.4(SLX4):c.1163+3dup
NM_032444.4(SLX4):c.1367-2A>G
NM_032444.4(SLX4):c.1538G>A (p.Trp513Ter)
NM_032444.4(SLX4):c.1880_1887del (p.Pro627fs) rs1266198754
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773
NM_032444.4(SLX4):c.2449del (p.Glu817fs) rs1567170994
NM_032444.4(SLX4):c.286del (p.Thr96fs) rs1596534281
NM_032444.4(SLX4):c.3726_3729del (p.Ser1243fs) rs878855162
NM_032444.4(SLX4):c.3955C>T (p.Gln1319Ter)
NM_032444.4(SLX4):c.4133del (p.Pro1378fs)
NM_032444.4(SLX4):c.4156C>T (p.Gln1386Ter)
NM_032444.4(SLX4):c.4259dup (p.Ile1421fs)
NM_032444.4(SLX4):c.4391_4403del (p.Ser1464fs) rs1596519879
NM_032444.4(SLX4):c.4405del (p.Ser1469fs) rs1596519854
NM_032444.4(SLX4):c.4862del (p.Leu1621fs) rs1567166544
NM_032444.4(SLX4):c.514del (p.Leu172fs) rs1567178071
NM_032444.4(SLX4):c.559C>T (p.Gln187Ter)
NM_032444.4(SLX4):c.59del (p.Leu20fs) rs1315905872
NM_032444.4(SLX4):c.860del (p.Ser287fs) rs752720263
SLX4, 4,890-BP DEL/2-BP INS
SLX4, IVS5DS, 1-BP DUP, T, +3

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