ClinVar Miner

List of variants in gene SLX4 studied for SLX4-related condition

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_032444.4(SLX4):c.1802C>T (p.Ser601Leu) rs59706816 0.00333
NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala) rs151105762 0.00218
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp) rs73505420 0.00210
NM_032444.4(SLX4):c.2328-9G>C rs73505419 0.00188
NM_032444.4(SLX4):c.422G>T (p.Gly141Val) rs77306735 0.00131
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys) rs140600202 0.00125
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00119
NM_032444.4(SLX4):c.590T>C (p.Val197Ala) rs147826749 0.00115
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp) rs142008398 0.00114
NM_032444.4(SLX4):c.4479G>A (p.Ser1493=) rs150097733 0.00112
NM_032444.4(SLX4):c.2667A>G (p.Gln889=) rs146790631 0.00066
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784 0.00049
NM_032444.4(SLX4):c.3189C>T (p.Gly1063=) rs200742809 0.00047
NM_032444.4(SLX4):c.1707G>A (p.Pro569=) rs141687678 0.00044
NM_032444.4(SLX4):c.1470C>T (p.Leu490=) rs139766312 0.00031
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln) rs143558209 0.00030
NM_032444.4(SLX4):c.3583_3585del (p.Ile1195del) rs199897550 0.00019
NM_032444.4(SLX4):c.4545C>T (p.Asp1515=) rs142851654 0.00018
NM_032444.4(SLX4):c.3758C>T (p.Thr1253Ile) rs202148391 0.00016
NM_032444.4(SLX4):c.4033C>T (p.Arg1345Cys) rs200310925 0.00016
NM_032444.4(SLX4):c.3315C>T (p.Ser1105=) rs183029626 0.00015
NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val) rs745421287 0.00015
NM_032444.4(SLX4):c.2226C>T (p.Asp742=) rs376261173 0.00013
NM_032444.4(SLX4):c.2160+8C>T rs374004875 0.00011
NM_032444.4(SLX4):c.4903A>G (p.Lys1635Glu) rs140417509 0.00011
NM_032444.4(SLX4):c.921C>T (p.Asn307=) rs370468973 0.00011
NM_032444.4(SLX4):c.3911T>G (p.Val1304Gly) rs146837290 0.00009
NM_032444.4(SLX4):c.3861G>A (p.Val1287=) rs756446820 0.00007
NM_032444.4(SLX4):c.4530G>T (p.Leu1510=) rs139254595 0.00006
NM_032444.4(SLX4):c.2100G>A (p.Gly700=) rs755000337 0.00005
NM_032444.4(SLX4):c.4856C>T (p.Pro1619Leu) rs771200478 0.00005
NM_032444.4(SLX4):c.2193C>T (p.Asp731=) rs551541558 0.00004
NM_032444.4(SLX4):c.2500T>C (p.Leu834=) rs755984266 0.00004
NM_032444.4(SLX4):c.3108A>G (p.Leu1036=) rs751431046 0.00004
NM_032444.4(SLX4):c.3235C>T (p.Pro1079Ser) rs373231418 0.00004
NM_032444.4(SLX4):c.3873G>A (p.Thr1291=) rs751302297 0.00004
NM_032444.4(SLX4):c.4765C>T (p.Arg1589Cys) rs181782315 0.00004
NM_032444.4(SLX4):c.5404G>A (p.Asp1802Asn) rs760435859 0.00004
NM_032444.4(SLX4):c.1520G>A (p.Arg507Lys) rs762550449 0.00003
NM_032444.4(SLX4):c.4686G>T (p.Pro1562=) rs752013105 0.00003
NM_032444.4(SLX4):c.1977G>A (p.Ser659=) rs572117922 0.00002
NM_032444.4(SLX4):c.4830C>T (p.Ser1610=) rs370775954 0.00002
NM_032444.4(SLX4):c.2274G>A (p.Ala758=) rs780854919 0.00001
NM_032444.4(SLX4):c.2889G>A (p.Arg963=) rs201978747 0.00001
NM_032444.4(SLX4):c.5081C>T (p.Ala1694Val) rs761226343 0.00001
NM_032444.4(SLX4):c.1331A>G (p.Glu444Gly)
NM_032444.4(SLX4):c.189A>G (p.Lys63=)
NM_032444.4(SLX4):c.1911G>A (p.Ser637=) rs200013924
NM_032444.4(SLX4):c.1951C>G (p.Pro651Ala)
NM_032444.4(SLX4):c.299C>A (p.Thr100Asn) rs201163062
NM_032444.4(SLX4):c.3259A>C (p.Ser1087Arg)
NM_032444.4(SLX4):c.3561G>A (p.Arg1187=) rs2151123357
NM_032444.4(SLX4):c.3951G>T (p.Pro1317=)
NM_032444.4(SLX4):c.4636+7A>G
NM_032444.4(SLX4):c.4804A>C (p.Thr1602Pro) rs756198942
NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter) rs200628199
NM_032444.4(SLX4):c.5040G>C (p.Arg1680Ser) rs199592185

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