ClinVar Miner

List of variants in gene SLX4 reported as likely pathogenic

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Total variants: 38
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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.1441C>T (p.Arg481Ter) rs1265030199 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.3895_3896del (p.Arg1299fs) rs763914156 0.00001
NM_032444.4(SLX4):c.4739+1G>T rs759186986 0.00001
NM_032444.4(SLX4):c.4739+2T>C rs774356384 0.00001
NM_032444.4(SLX4):c.5154-1G>A rs761665399 0.00001
NM_032444.4(SLX4):c.860del (p.Ser287fs) rs752720263 0.00001
NC_000016.9:g.(?_3634750)_(3634892_?)dup
NC_000016.9:g.(?_3634764)_(3634878_?)dup
NM_032444.4(SLX4):c.106G>T (p.Glu36Ter)
NM_032444.4(SLX4):c.1116_1117insT (p.Leu373fs) rs2151133987
NM_032444.4(SLX4):c.1125del (p.Ala376fs) rs2151133964
NM_032444.4(SLX4):c.1163+1G>A
NM_032444.4(SLX4):c.1163+2dup rs2040719850
NM_032444.4(SLX4):c.1684-1G>A
NM_032444.4(SLX4):c.1684-2A>C
NM_032444.4(SLX4):c.1693C>T (p.Gln565Ter) rs1046422222
NM_032444.4(SLX4):c.2013+2T>C
NM_032444.4(SLX4):c.2161-2A>T rs2151127331
NM_032444.4(SLX4):c.2384C>G (p.Ser795Ter) rs2151126006
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.4823C>G (p.Ser1608Ter) rs200628199
NM_032444.4(SLX4):c.4837G>T (p.Glu1613Ter) rs761469284
NM_032444.4(SLX4):c.4881del (p.Thr1628fs) rs1596515638
NM_032444.4(SLX4):c.5097_5098del (p.Gln1700fs) rs1022072026
NM_032444.4(SLX4):c.5120_5121del (p.Val1707fs) rs2040460653
NM_032444.4(SLX4):c.5172del (p.Phe1724fs)
NM_032444.4(SLX4):c.5216_5217dup (p.Val1740fs) rs2151115927
NM_032444.4(SLX4):c.5229dup (p.Gln1744fs) rs781479923
NM_032444.4(SLX4):c.559C>T (p.Gln187Ter) rs2040788600
NM_032444.4(SLX4):c.859_860del (p.Ser287fs) rs1567176006
NM_032444.4(SLX4):c.951-1G>C
NM_032444.4(SLX4):c.951-1G>T rs750371433

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