ClinVar Miner

List of variants reported as likely benign for agenesis of the corpus callosum with peripheral neuropathy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_018648.4(NOP10):c.*136T>C rs3063 0.15629
NM_001365088.1(SLC12A6):c.-72-71G>A rs73374490 0.14812
NM_001365088.1(SLC12A6):c.*1963_*1964del rs61577073 0.11115
NM_018648.4(NOP10):c.*149G>A rs7173 0.09458
NM_001365088.1(SLC12A6):c.*3039_*3040insCT rs145421659 0.05957
NM_001365088.1(SLC12A6):c.*2901T>A rs8039731 0.01711
NM_001365088.1(SLC12A6):c.*1357C>T rs116076857 0.01112
NM_018648.4(NOP10):c.*129G>A rs115413508 0.00972
NM_001365088.1(SLC12A6):c.408T>C (p.Phe136=) rs145186782 0.00836
NM_001365088.1(SLC12A6):c.*3400C>T rs79634593 0.00811
NM_001365088.1(SLC12A6):c.318C>T (p.Asp106=) rs116086579 0.00575
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_001365088.1(SLC12A6):c.*1130C>A rs142463396 0.00347
NM_001365088.1(SLC12A6):c.*1195A>G rs137985758 0.00346
NM_001365088.1(SLC12A6):c.*3388G>C rs189231487 0.00296
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509 0.00245
NM_001365088.1(SLC12A6):c.3120C>T (p.Thr1040=) rs571120129 0.00105
NM_001365088.1(SLC12A6):c.1164C>T (p.Asp388=) rs145615604 0.00062
NM_001365088.1(SLC12A6):c.3249G>A (p.Arg1083=) rs149640638 0.00061
NM_001365088.1(SLC12A6):c.*3080G>C rs193075132 0.00053
NM_001365088.1(SLC12A6):c.2613C>T (p.Arg871=) rs144297460 0.00048
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=) rs145775351 0.00028
NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys) rs77122016 0.00023
NM_001365088.1(SLC12A6):c.966C>T (p.Gly322=) rs142496698 0.00020
NM_001365088.1(SLC12A6):c.1815G>A (p.Pro605=) rs141035492 0.00017
NM_001365088.1(SLC12A6):c.2565G>A (p.Thr855=) rs201062811 0.00013
NM_001365088.1(SLC12A6):c.319G>A (p.Asp107Asn) rs781088641 0.00011
NM_001365088.1(SLC12A6):c.21C>T (p.Thr7=) rs146902000 0.00007
NM_001365088.1(SLC12A6):c.918C>T (p.Asp306=) rs201041861 0.00006
NM_001365088.1(SLC12A6):c.1008C>T (p.Gly336=) rs770742608 0.00004
NM_001365088.1(SLC12A6):c.924C>G (p.Leu308=) rs372465430 0.00004
NM_001365088.1(SLC12A6):c.1005C>T (p.Ile335=) rs35855196 0.00003
NM_001365088.1(SLC12A6):c.1659T>C (p.Asp553=) rs750940125 0.00003
NM_001365088.1(SLC12A6):c.1825-16T>C rs763005505 0.00002
NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=) rs562984167 0.00002
NM_001365088.1(SLC12A6):c.2859T>C (p.Ser953=) rs776132941 0.00002
NM_001365088.1(SLC12A6):c.576C>T (p.Tyr192=) rs774081365 0.00002
NM_001365088.1(SLC12A6):c.849C>T (p.Tyr283=) rs753466496 0.00002
NM_001365088.1(SLC12A6):c.1017T>C (p.Tyr339=) rs373193470 0.00001
NM_001365088.1(SLC12A6):c.1707A>G (p.Pro569=) rs764272139 0.00001
NM_001365088.1(SLC12A6):c.271+17732A>G rs781478530 0.00001
NM_001365088.1(SLC12A6):c.964G>A (p.Gly322Ser) rs75235010 0.00001
NM_001365088.1(SLC12A6):c.*2516dup rs77227436
NM_001365088.1(SLC12A6):c.*2518dup rs748128930
NM_001365088.1(SLC12A6):c.*3139GTCT[1] rs143386876
NM_001365088.1(SLC12A6):c.*3672A>G rs182573709
NM_001365088.1(SLC12A6):c.1551G>A (p.Pro517=) rs17236798
NM_001365088.1(SLC12A6):c.1632G>A (p.Gly544=) rs538172969
NM_001365088.1(SLC12A6):c.1650-7T>C rs752125669
NM_001365088.1(SLC12A6):c.271+17808T>G rs137998688
NM_001365088.1(SLC12A6):c.316+6G>C rs1894227805
NM_001365088.1(SLC12A6):c.317-5del rs747243268
NM_001365088.1(SLC12A6):c.411+10del rs377536268

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