ClinVar Miner

List of variants studied for agenesis of the corpus callosum with peripheral neuropathy by Baylor Genetics

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 53
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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.2230C>T (p.Arg744Ter) rs751184319 0.00002
NM_001365088.1(SLC12A6):c.2043-2A>G rs1372841592 0.00001
NM_001365088.1(SLC12A6):c.2509_2510insTC (p.Glu837fs) rs1184523433 0.00001
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter) rs1057516262 0.00001
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter) rs199747285 0.00001
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys) rs121908429 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>G (p.Ser384Ter) rs1892451015
NM_001365088.1(SLC12A6):c.1218G>A (p.Trp406Ter)
NM_001365088.1(SLC12A6):c.1221dup (p.Phe408fs)
NM_001365088.1(SLC12A6):c.1385del (p.Pro461_Ser462insTer)
NM_001365088.1(SLC12A6):c.1858del (p.Thr620fs)
NM_001365088.1(SLC12A6):c.1931dup (p.Ile645fs)
NM_001365088.1(SLC12A6):c.2002C>T (p.Arg668Ter)
NM_001365088.1(SLC12A6):c.2153_2156dup (p.Tyr719Ter)
NM_001365088.1(SLC12A6):c.2180dup (p.Gly727_Asp728insTer)
NM_001365088.1(SLC12A6):c.2265G>A (p.Trp755Ter)
NM_001365088.1(SLC12A6):c.2272C>T (p.Gln758Ter)
NM_001365088.1(SLC12A6):c.2304dup (p.His770fs)
NM_001365088.1(SLC12A6):c.2401del (p.Phe800_Leu801insTer)
NM_001365088.1(SLC12A6):c.2436+1del rs515726215
NM_001365088.1(SLC12A6):c.2437-2A>G rs1057516337
NM_001365088.1(SLC12A6):c.2444del (p.Lys815fs)
NM_001365088.1(SLC12A6):c.2482del (p.Gln828fs)
NM_001365088.1(SLC12A6):c.250dup (p.His84fs) rs1057518713
NM_001365088.1(SLC12A6):c.2533dup (p.Ser845fs)
NM_001365088.1(SLC12A6):c.2535_2536del (p.Cys846fs)
NM_001365088.1(SLC12A6):c.2593C>A (p.Arg865Ser) rs766850109
NM_001365088.1(SLC12A6):c.2648_2649insT (p.Thr884fs)
NM_001365088.1(SLC12A6):c.271+2T>C
NM_001365088.1(SLC12A6):c.2736dup (p.Val913fs)
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.3016del (p.Leu1006fs)
NM_001365088.1(SLC12A6):c.3021del (p.Thr1009fs)
NM_001365088.1(SLC12A6):c.3076C>T (p.Arg1026Ter) rs752155450
NM_001365088.1(SLC12A6):c.316+1G>A rs1462170681
NM_001365088.1(SLC12A6):c.3176del (p.Gly1059fs)
NM_001365088.1(SLC12A6):c.3227+2dup
NM_001365088.1(SLC12A6):c.3321del (p.Asn1107fs)
NM_001365088.1(SLC12A6):c.3346G>T (p.Glu1116Ter) rs1555376688
NM_001365088.1(SLC12A6):c.337C>T (p.Arg113Ter) rs1054429141
NM_001365088.1(SLC12A6):c.391A>T (p.Lys131Ter)
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.900_909del (p.Ile301fs)
NM_001365088.1(SLC12A6):c.930del (p.Glu310fs)

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