ClinVar Miner

List of variants in gene SLX4 reported as likely pathogenic for not provided

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_032444.4(SLX4):c.3019C>A (p.Gln1007Lys) rs138798067 0.00005
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.5154-1G>A rs761665399 0.00001
NM_032444.4(SLX4):c.1163+2dup rs2040719850
NM_032444.4(SLX4):c.1693C>T (p.Gln565Ter) rs1046422222
NM_032444.4(SLX4):c.2384C>G (p.Ser795Ter) rs2151126006
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.559C>T (p.Gln187Ter) rs2040788600
NM_032444.4(SLX4):c.951-1G>T rs750371433

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