ClinVar Miner

List of variants in gene SLX4 reported as likely pathogenic for Fanconi anemia complementation group P

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 11
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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.2137C>T (p.Arg713Ter) rs760126773 0.00001
NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter) rs1267428175 0.00001
NM_032444.4(SLX4):c.3895_3896del (p.Arg1299fs) rs763914156 0.00001
NM_032444.4(SLX4):c.860del (p.Ser287fs) rs752720263 0.00001
NM_032444.4(SLX4):c.106G>T (p.Glu36Ter)
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter) rs1596520443
NM_032444.4(SLX4):c.425del (p.Gly142fs) rs757662453
NM_032444.4(SLX4):c.4585C>T (p.Gln1529Ter) rs1237224833
NM_032444.4(SLX4):c.5120_5121del (p.Val1707fs) rs2040460653
NM_032444.4(SLX4):c.951-1G>T rs750371433

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