ClinVar Miner

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

Included ClinVar conditions (258):
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Total variants: 13
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HGVS dbSNP
NC_000016.10:g.(?_3608430)_(3609566_?)del
NM_032444.3(SLX4):c.2137C>T (p.Arg713Ter) rs760126773
NM_032444.3(SLX4):c.2449del (p.Glu817Asnfs)
NM_032444.3(SLX4):c.3726_3729delGAGC (p.Ser1243Alafs) rs878855162
NM_032444.3(SLX4):c.4862del (p.Leu1621Cysfs)
NM_032444.3(SLX4):c.59del (p.Leu20Argfs) rs1315905872
NM_032444.3(SLX4):c.860delG (p.Ser287Thrfs) rs752720263
NM_032444.4(SLX4):c.1163+2T>A
NM_032444.4(SLX4):c.514del (p.Leu172Phefs)
SLX4, 1-BP DEL, 1093C
SLX4, 1-BP DEL, 286A
SLX4, 4,890-BP DEL/2-BP INS
SLX4, IVS5DS, 1-BP DUP, T, +3

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