ClinVar Miner

List of variants in gene SLC12A6 reported as likely pathogenic for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_001365088.1(SLC12A6):c.776del (p.Ala259fs) rs776790336 0.00005
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) rs606231229 0.00003
NM_001365088.1(SLC12A6):c.2043-2A>G rs1372841592 0.00001
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter) rs1057516262 0.00001
NM_001365088.1(SLC12A6):c.892C>T (p.Arg298Ter) rs897661402 0.00001
NM_001365088.1(SLC12A6):c.1118+1G>A rs762730861
NM_001365088.1(SLC12A6):c.1148C>A (p.Ser383Ter)
NM_001365088.1(SLC12A6):c.1151C>A (p.Ser384Ter)
NM_001365088.1(SLC12A6):c.1218G>A (p.Trp406Ter)
NM_001365088.1(SLC12A6):c.1219_1220del (p.Gly407fs)
NM_001365088.1(SLC12A6):c.1221dup (p.Phe408fs)
NM_001365088.1(SLC12A6):c.1291_1292del (p.Ser431fs)
NM_001365088.1(SLC12A6):c.1318delinsGTCTCTTATACACATCT (p.Ser440fs)
NM_001365088.1(SLC12A6):c.1385del (p.Pro461_Ser462insTer)
NM_001365088.1(SLC12A6):c.1471_1473delinsTTCCATTCCAT (p.Ile491fs)
NM_001365088.1(SLC12A6):c.1519G>T (p.Gly507Ter)
NM_001365088.1(SLC12A6):c.1591+3A>G rs2140726249
NM_001365088.1(SLC12A6):c.1650-1G>C rs1555378707
NM_001365088.1(SLC12A6):c.1711dup (p.Val571fs)
NM_001365088.1(SLC12A6):c.1820del (p.Leu607fs)
NM_001365088.1(SLC12A6):c.1822_1823del (p.Arg608fs)
NM_001365088.1(SLC12A6):c.1858del (p.Thr620fs)
NM_001365088.1(SLC12A6):c.1931dup (p.Ile645fs)
NM_001365088.1(SLC12A6):c.1950dup (p.Leu651fs)
NM_001365088.1(SLC12A6):c.1972_1973del (p.Asn658fs)
NM_001365088.1(SLC12A6):c.1997T>A (p.Leu666Ter)
NM_001365088.1(SLC12A6):c.2002C>T (p.Arg668Ter)
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter) rs121908428
NM_001365088.1(SLC12A6):c.2100del (p.Trp700fs)
NM_001365088.1(SLC12A6):c.2153_2156dup (p.Tyr719Ter)
NM_001365088.1(SLC12A6):c.2162+1G>A rs1555377971
NM_001365088.1(SLC12A6):c.2180dup (p.Gly727_Asp728insTer)
NM_001365088.1(SLC12A6):c.2260_2266delinsCTGGT (p.Asn754fs)
NM_001365088.1(SLC12A6):c.2265G>A (p.Trp755Ter)
NM_001365088.1(SLC12A6):c.2265_2266delinsTAGATT (p.Trp755fs)
NM_001365088.1(SLC12A6):c.2272C>T (p.Gln758Ter)
NM_001365088.1(SLC12A6):c.2285T>A (p.Leu762Ter)
NM_001365088.1(SLC12A6):c.2304dup (p.His770fs)
NM_001365088.1(SLC12A6):c.2401del (p.Phe800_Leu801insTer)
NM_001365088.1(SLC12A6):c.2416G>T (p.Glu806Ter) rs1057516271
NM_001365088.1(SLC12A6):c.2423dup (p.Leu808fs) rs1057516435
NM_001365088.1(SLC12A6):c.2430_2431delinsA (p.Glu811fs)
NM_001365088.1(SLC12A6):c.2633-1G>A rs1555377252
NM_001365088.1(SLC12A6):c.2648_2649insT (p.Thr884fs)
NM_001365088.1(SLC12A6):c.2700del (p.Ser901fs)
NM_001365088.1(SLC12A6):c.271+2T>C
NM_001365088.1(SLC12A6):c.2736dup (p.Val913fs)
NM_001365088.1(SLC12A6):c.2803-1G>C rs1057516378
NM_001365088.1(SLC12A6):c.2803-1G>T rs1057516378
NM_001365088.1(SLC12A6):c.281_294del (p.Gln94fs) rs1555384171
NM_001365088.1(SLC12A6):c.286_287del (p.Ser96fs)
NM_001365088.1(SLC12A6):c.288dup (p.Ile97fs)
NM_001365088.1(SLC12A6):c.2924_2928dup (p.Glu977fs)
NM_001365088.1(SLC12A6):c.2929_2932delinsAGT (p.Glu977fs)
NM_001365088.1(SLC12A6):c.2950_2959del (p.Ser984fs) rs1057517334
NM_001365088.1(SLC12A6):c.2962_2963dup (p.Glu989fs) rs2140641550
NM_001365088.1(SLC12A6):c.298G>T (p.Glu100Ter) rs573444140
NM_001365088.1(SLC12A6):c.298del (p.Glu100fs) rs1555384169
NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs) rs606231158
NM_001365088.1(SLC12A6):c.3012dup (p.Arg1005fs)
NM_001365088.1(SLC12A6):c.3016del (p.Leu1006fs)
NM_001365088.1(SLC12A6):c.3021del (p.Thr1009fs)
NM_001365088.1(SLC12A6):c.3029_3030del (p.Glu1010fs)
NM_001365088.1(SLC12A6):c.3076C>T (p.Arg1026Ter) rs752155450
NM_001365088.1(SLC12A6):c.3123T>A (p.Tyr1041Ter)
NM_001365088.1(SLC12A6):c.316+1G>A rs1462170681
NM_001365088.1(SLC12A6):c.3176del (p.Gly1059fs)
NM_001365088.1(SLC12A6):c.3216dup (p.Asn1073Ter) rs1555376818
NM_001365088.1(SLC12A6):c.3220dup (p.Met1074fs) rs1057517289
NM_001365088.1(SLC12A6):c.3227+1G>A rs1057516969
NM_001365088.1(SLC12A6):c.3227+2dup
NM_001365088.1(SLC12A6):c.329_330delinsT (p.Lys110fs)
NM_001365088.1(SLC12A6):c.3304_3308del (p.Lys1102fs) rs1057516752
NM_001365088.1(SLC12A6):c.3337C>T (p.Arg1113Ter) rs768514327
NM_001365088.1(SLC12A6):c.3346G>T (p.Glu1116Ter) rs1555376688
NM_001365088.1(SLC12A6):c.3361+2T>G rs1555376682
NM_001365088.1(SLC12A6):c.337C>T (p.Arg113Ter) rs1054429141
NM_001365088.1(SLC12A6):c.388_392delinsTAT (p.Asp130fs)
NM_001365088.1(SLC12A6):c.391A>T (p.Lys131Ter)
NM_001365088.1(SLC12A6):c.519_520del (p.Glu174fs)
NM_001365088.1(SLC12A6):c.526A>T (p.Lys176Ter)
NM_001365088.1(SLC12A6):c.543+2T>G rs1555381538
NM_001365088.1(SLC12A6):c.549_550del (p.Gln184fs)
NM_001365088.1(SLC12A6):c.550dup (p.Gln184fs) rs1057517109
NM_001365088.1(SLC12A6):c.557del (p.Gly186fs)
NM_001365088.1(SLC12A6):c.559_560del (p.Thr187fs)
NM_001365088.1(SLC12A6):c.571_572dup (p.Tyr192fs) rs775111365
NM_001365088.1(SLC12A6):c.589C>T (p.Gln197Ter)
NM_001365088.1(SLC12A6):c.745+1G>T rs1595442984
NM_001365088.1(SLC12A6):c.745+2T>A rs1555380998
NM_001365088.1(SLC12A6):c.900_909del (p.Ile301fs)
NM_001365088.1(SLC12A6):c.901del (p.Ile301fs) rs606231157
NM_001365088.1(SLC12A6):c.930del (p.Glu310fs)
NM_001365088.1(SLC12A6):c.963C>A (p.Tyr321Ter) rs35583475
NM_001365088.1(SLC12A6):c.981_985del (p.Leu328fs)
NM_001365088.1(SLC12A6):c.984del (p.Met329fs)
NM_001365088.1(SLC12A6):c.992T>A (p.Leu331Ter)

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