ClinVar Miner

List of variants studied for agenesis of the corpus callosum with peripheral neuropathy by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_001365088.1(SLC12A6):c.3003C>T (p.Leu1001=) rs4577050 0.60784
NM_001365088.1(SLC12A6):c.475C>T (p.Leu159=) rs7164902 0.22884
NM_001365088.1(SLC12A6):c.1551G>C (p.Pro517=) rs17236798 0.16144
NM_001365088.1(SLC12A6):c.1236G>A (p.Ser412=) rs2290940 0.16143
NM_001365088.1(SLC12A6):c.963C>T (p.Tyr321=) rs35583475 0.01718
NM_001365088.1(SLC12A6):c.408T>C (p.Phe136=) rs145186782 0.00836
NM_001365088.1(SLC12A6):c.1284C>T (p.Asn428=) rs34098566 0.00816
NM_001365088.1(SLC12A6):c.1269C>T (p.Tyr423=) rs114911287 0.00588
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
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.1752A>C (p.Gly584=) rs186888172 0.00067
NM_001365088.1(SLC12A6):c.2613C>T (p.Arg871=) rs144297460 0.00048
NM_001365088.1(SLC12A6):c.1250A>G (p.Asn417Ser) rs199945338 0.00034
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.1139G>A (p.Arg380His) rs375887656 0.00016
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.221C>A (p.Ala74Glu) rs373526599 0.00010
NM_001365088.1(SLC12A6):c.3043-3C>G rs368682142 0.00008
NM_001365088.1(SLC12A6):c.1601A>G (p.Asn534Ser) rs778821191 0.00007
NM_001365088.1(SLC12A6):c.21C>T (p.Thr7=) rs146902000 0.00007
NM_001365088.1(SLC12A6):c.1369A>T (p.Ile457Phe) rs751420584 0.00006
NM_001365088.1(SLC12A6):c.1663G>A (p.Val555Met) rs140635276 0.00006
NM_001365088.1(SLC12A6):c.338G>A (p.Arg113Gln) rs371696267 0.00006
NM_001365088.1(SLC12A6):c.381A>G (p.Glu127=) rs567323663 0.00006
NM_001365088.1(SLC12A6):c.918C>T (p.Asp306=) rs201041861 0.00006
NM_001365088.1(SLC12A6):c.176C>G (p.Pro59Arg) rs777459849 0.00005
NM_001365088.1(SLC12A6):c.1484C>G (p.Ser495Cys) rs373077646 0.00004
NM_001365088.1(SLC12A6):c.2412C>T (p.Tyr804=) rs773206972 0.00004
NM_001365088.1(SLC12A6):c.47T>C (p.Met16Thr) rs746665611 0.00004
NM_001365088.1(SLC12A6):c.885C>T (p.Ile295=) rs146726039 0.00004
NM_001365088.1(SLC12A6):c.924C>G (p.Leu308=) rs372465430 0.00004
NM_001365088.1(SLC12A6):c.958G>A (p.Val320Ile) rs752427635 0.00004
NM_001365088.1(SLC12A6):c.1242A>G (p.Gln414=) rs1464322097 0.00003
NM_001365088.1(SLC12A6):c.1659T>C (p.Asp553=) rs750940125 0.00003
NM_001365088.1(SLC12A6):c.2003G>A (p.Arg668Gln) rs779359867 0.00003
NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg) rs369793136 0.00003
NM_001365088.1(SLC12A6):c.455G>A (p.Arg152His) rs200361670 0.00003
NM_001365088.1(SLC12A6):c.1998A>G (p.Leu666=) rs761707485 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.294A>G (p.Thr98=) rs1894230939 0.00002
NM_001365088.1(SLC12A6):c.-9A>G rs760840867 0.00001
NM_001365088.1(SLC12A6):c.1017T>C (p.Tyr339=) rs373193470 0.00001
NM_001365088.1(SLC12A6):c.1065C>G (p.Ile355Met) rs1229903219 0.00001
NM_001365088.1(SLC12A6):c.1079C>G (p.Ala360Gly) rs1386170769 0.00001
NM_001365088.1(SLC12A6):c.1109C>T (p.Pro370Leu) rs774246639 0.00001
NM_001365088.1(SLC12A6):c.1260T>C (p.Cys420=) rs1226622652 0.00001
NM_001365088.1(SLC12A6):c.1457C>T (p.Thr486Met) rs748315324 0.00001
NM_001365088.1(SLC12A6):c.1614T>G (p.Phe538Leu) rs1057520062 0.00001
NM_001365088.1(SLC12A6):c.1671T>A (p.Gly557=) rs757602343 0.00001
NM_001365088.1(SLC12A6):c.1826T>C (p.Val609Ala) rs747694318 0.00001
NM_001365088.1(SLC12A6):c.2109C>T (p.Ala703=) rs928370333 0.00001
NM_001365088.1(SLC12A6):c.240C>T (p.Asp80=) rs201684992 0.00001
NM_001365088.1(SLC12A6):c.2961T>G (p.Thr987=) rs747237563 0.00001
NM_001365088.1(SLC12A6):c.524G>A (p.Gly175Glu) rs764119511 0.00001
NM_001365088.1(SLC12A6):c.546C>T (p.Thr182=) rs775527538 0.00001
NM_001365088.1(SLC12A6):c.940A>T (p.Met314Leu) rs34491959 0.00001
NM_001365088.1(SLC12A6):c.953T>C (p.Met318Thr) rs777759928 0.00001
NM_001365088.1(SLC12A6):c.1094CTT[1] (p.Ser366del) rs779390859
NM_001365088.1(SLC12A6):c.1632G>A (p.Gly544=) rs538172969
NM_001365088.1(SLC12A6):c.1650-7T>C rs752125669
NM_001365088.1(SLC12A6):c.17CCA[2] (p.Thr8del) rs768255547
NM_001365088.1(SLC12A6):c.1847A>G (p.Asn616Ser) rs201468351
NM_001365088.1(SLC12A6):c.1944-10del rs769896374
NM_001365088.1(SLC12A6):c.2641C>A (p.Arg881=) rs1891418018
NM_001365088.1(SLC12A6):c.2691CTT[1] (p.Phe899del) rs766009881
NM_001365088.1(SLC12A6):c.2935-5dup rs771183227
NM_001365088.1(SLC12A6):c.3093C>G (p.Gly1031=) rs765914635
NM_001365088.1(SLC12A6):c.3102G>A (p.Glu1034=) rs762351597
NM_001365088.1(SLC12A6):c.3120C>G (p.Thr1040=) rs571120129
NM_001365088.1(SLC12A6):c.316+1G>A rs1462170681
NM_001365088.1(SLC12A6):c.317-5del rs747243268
NM_001365088.1(SLC12A6):c.3174G>T (p.Arg1058=) rs1333110524
NM_001365088.1(SLC12A6):c.3227+1G>A rs1057516969
NM_001365088.1(SLC12A6):c.3270C>G (p.Leu1090=) rs1891174701
NM_001365088.1(SLC12A6):c.374G>T (p.Gly125Val) rs759907642
NM_001365088.1(SLC12A6):c.55C>T (p.Pro19Ser) rs1890217851
NM_001365088.1(SLC12A6):c.658G>T (p.Ala220Ser) rs1892846270
NM_001365088.1(SLC12A6):c.852C>G (p.Ile284Met) rs1467033571
NM_001365088.1(SLC12A6):c.861C>T (p.Ala287=) rs760276522
NM_001365088.1(SLC12A6):c.862A>G (p.Ile288Val) rs1892670698
NM_133647.2(SLC12A6):c.320_322del rs758672590

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