ClinVar Miner

List of variants in gene SLC22A12 reported as uncertain significance for Inborn genetic diseases

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_144585.4(SLC22A12):c.1612G>A (p.Ala538Thr) rs199535450 0.00043
NM_144585.4(SLC22A12):c.391A>G (p.Ile131Val) rs150428327 0.00031
NM_144585.4(SLC22A12):c.1075G>A (p.Ala359Thr) rs201322494 0.00012
NM_144585.4(SLC22A12):c.1217G>A (p.Arg406His) rs372595086 0.00005
NM_144585.4(SLC22A12):c.1534G>A (p.Ala512Thr) rs759924740 0.00003
NM_144585.4(SLC22A12):c.1582C>A (p.Gln528Lys) rs375375872 0.00003
NM_144585.4(SLC22A12):c.1625C>T (p.Thr542Met) rs773135262 0.00003
NM_144585.4(SLC22A12):c.220G>T (p.Ala74Ser) rs200961759 0.00003
NM_144585.4(SLC22A12):c.1355T>A (p.Ile452Asn) rs757694037 0.00002
NM_144585.4(SLC22A12):c.1376T>G (p.Leu459Arg) rs777825034 0.00002
NM_144585.4(SLC22A12):c.173C>T (p.Thr58Met) rs761277987 0.00002
NM_144585.4(SLC22A12):c.208G>A (p.Glu70Lys) rs755253783 0.00002
NM_144585.4(SLC22A12):c.959T>C (p.Leu320Ser) rs761111400 0.00002
NM_144585.4(SLC22A12):c.1573G>A (p.Asp525Asn) rs372091940 0.00001
NM_144585.4(SLC22A12):c.1585G>C (p.Asp529His) rs892117065 0.00001
NM_144585.4(SLC22A12):c.334G>A (p.Asp112Asn) rs772733867 0.00001
NM_144585.4(SLC22A12):c.358T>C (p.Trp120Arg) rs752474717 0.00001
NM_144585.4(SLC22A12):c.468T>G (p.Ile156Met) rs1285310093 0.00001
NM_144585.4(SLC22A12):c.1022T>G (p.Leu341Arg)
NM_144585.4(SLC22A12):c.1074C>A (p.Phe358Leu)
NM_144585.4(SLC22A12):c.1096G>A (p.Gly366Ser) rs1047976958
NM_144585.4(SLC22A12):c.1205A>C (p.His402Pro)
NM_144585.4(SLC22A12):c.1271C>T (p.Thr424Met) rs150779326
NM_144585.4(SLC22A12):c.1361T>C (p.Ile454Thr) rs2495569328
NM_144585.4(SLC22A12):c.140A>C (p.His47Pro) rs2495476488
NM_144585.4(SLC22A12):c.1435G>A (p.Gly479Arg) rs2495571581
NM_144585.4(SLC22A12):c.1442T>C (p.Ile481Thr) rs2039429852
NM_144585.4(SLC22A12):c.1553C>T (p.Thr518Ile)
NM_144585.4(SLC22A12):c.1564C>T (p.Pro522Ser)
NM_144585.4(SLC22A12):c.1600G>T (p.Ala534Ser) rs775953526
NM_144585.4(SLC22A12):c.205C>T (p.Pro69Ser) rs2495477144
NM_144585.4(SLC22A12):c.266G>C (p.Arg89Pro)
NM_144585.4(SLC22A12):c.322T>C (p.Trp108Arg) rs2038928161
NM_144585.4(SLC22A12):c.419A>T (p.Asp140Val) rs2495485514
NM_144585.4(SLC22A12):c.536G>A (p.Ser179Asn)
NM_144585.4(SLC22A12):c.62C>A (p.Thr21Lys) rs1488921348
NM_144585.4(SLC22A12):c.637G>C (p.Val213Leu) rs1014455077
NM_144585.4(SLC22A12):c.686C>T (p.Ala229Val) rs2495492904
NM_144585.4(SLC22A12):c.724A>G (p.Ser242Gly)
NM_144585.4(SLC22A12):c.771C>A (p.Asp257Glu)

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