ClinVar Miner

List of variants reported as likely benign for Neuropathy, hereditary motor and sensory, type 6B

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Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_138773.4(SLC25A46):c.52G>T (p.Ala18Ser) rs191332512 0.00357
NM_138773.4(SLC25A46):c.631G>A (p.Val211Met) rs114859074 0.00257
NM_138773.4(SLC25A46):c.767A>G (p.Lys256Arg) rs141213807 0.00193
NM_138773.4(SLC25A46):c.742A>C (p.Ile248Leu) rs149585060 0.00191
NM_138773.4(SLC25A46):c.278G>A (p.Ser93Asn) rs73230112 0.00170
NM_138773.4(SLC25A46):c.235G>A (p.Glu79Lys) rs200566665 0.00086
NM_138773.4(SLC25A46):c.678+17del rs371101588 0.00059
NM_138773.4(SLC25A46):c.416C>A (p.Thr139Asn) rs202123515 0.00048
NM_138773.4(SLC25A46):c.326+13C>T rs368429622 0.00039
NM_138773.4(SLC25A46):c.283+10A>G rs763772509 0.00013
NM_138773.4(SLC25A46):c.326+15A>G rs372028597 0.00013
NM_138773.4(SLC25A46):c.385-4A>G rs377289513 0.00009
NM_138773.4(SLC25A46):c.273G>T (p.Gly91=) rs770228533 0.00005
NM_138773.4(SLC25A46):c.144T>C (p.Asp48=) rs139629514 0.00004
NM_138773.4(SLC25A46):c.679-9T>G rs184715255 0.00004
NM_138773.4(SLC25A46):c.1176T>G (p.Val392=) rs140617247 0.00003
NM_138773.4(SLC25A46):c.219C>T (p.Tyr73=) rs755840361 0.00003
NM_138773.4(SLC25A46):c.780G>A (p.Pro260=) rs766154121 0.00003
NM_138773.4(SLC25A46):c.168C>T (p.His56=) rs140606969 0.00002
NM_138773.4(SLC25A46):c.210C>T (p.Ser70=) rs1438784180 0.00002
NM_138773.4(SLC25A46):c.558G>A (p.Leu186=) rs200143217 0.00002
NM_138773.4(SLC25A46):c.678+15dup rs762000801 0.00002
NM_138773.4(SLC25A46):c.1008A>G (p.Thr336=) rs753034037 0.00001
NM_138773.4(SLC25A46):c.1012T>C (p.Leu338=) rs1427862087 0.00001
NM_138773.4(SLC25A46):c.1074A>G (p.Glu358=) rs762830379 0.00001
NM_138773.4(SLC25A46):c.1101G>A (p.Glu367=) rs768641525 0.00001
NM_138773.4(SLC25A46):c.1218C>A (p.Thr406=) rs530497959 0.00001
NM_138773.4(SLC25A46):c.1248T>C (p.Asn416=) rs776771749 0.00001
NM_138773.4(SLC25A46):c.12G>A (p.Arg4=) rs1443851670 0.00001
NM_138773.4(SLC25A46):c.177G>A (p.Glu59=) rs777324317 0.00001
NM_138773.4(SLC25A46):c.261C>A (p.Gly87=) rs955762085 0.00001
NM_138773.4(SLC25A46):c.283+13G>A rs1445933845 0.00001
NM_138773.4(SLC25A46):c.326+20C>T rs751750749 0.00001
NM_138773.4(SLC25A46):c.384+7G>A rs760742549 0.00001
NM_138773.4(SLC25A46):c.426A>T (p.Thr142=) rs758691521 0.00001
NM_138773.4(SLC25A46):c.564-15A>G rs1394762178 0.00001
NM_138773.4(SLC25A46):c.679-12T>C rs1329331980 0.00001
NM_138773.4(SLC25A46):c.679-7A>G rs775146466 0.00001
NM_138773.4(SLC25A46):c.804G>A (p.Thr268=) rs757342761 0.00001
NM_138773.4(SLC25A46):c.81C>T (p.Ala27=) rs1323118441 0.00001
NM_138773.4(SLC25A46):c.84C>T (p.Phe28=) rs1460019948 0.00001
NM_138773.4(SLC25A46):c.105C>T (p.Thr35=) rs1295091261
NM_138773.4(SLC25A46):c.1092A>C (p.Thr364=) rs1800253655
NM_138773.4(SLC25A46):c.1125C>T (p.Thr375=) rs2150419387
NM_138773.4(SLC25A46):c.1134G>A (p.Gln378=) rs1164068029
NM_138773.4(SLC25A46):c.1152T>C (p.Gly384=) rs2150419425
NM_138773.4(SLC25A46):c.115C>T (p.Leu39=)
NM_138773.4(SLC25A46):c.1200A>G (p.Ala400=) rs2150419453
NM_138773.4(SLC25A46):c.1203T>C (p.Ala401=) rs1580871216
NM_138773.4(SLC25A46):c.123C>T (p.His41=)
NM_138773.4(SLC25A46):c.1254T>C (p.Ile418=)
NM_138773.4(SLC25A46):c.135T>C (p.Thr45=)
NM_138773.4(SLC25A46):c.147C>A (p.Ile49=) rs145421520
NM_138773.4(SLC25A46):c.186G>T (p.Pro62=)
NM_138773.4(SLC25A46):c.18G>T (p.Pro6=)
NM_138773.4(SLC25A46):c.198G>T (p.Val66=) rs761232447
NM_138773.4(SLC25A46):c.283+15G>A
NM_138773.4(SLC25A46):c.283+17C>T
NM_138773.4(SLC25A46):c.283+9C>G
NM_138773.4(SLC25A46):c.284-11T>C rs2150408031
NM_138773.4(SLC25A46):c.284-16T>C
NM_138773.4(SLC25A46):c.288G>A (p.Gln96=) rs2150408040
NM_138773.4(SLC25A46):c.303T>C (p.Ala101=)
NM_138773.4(SLC25A46):c.326+11A>G rs760216361
NM_138773.4(SLC25A46):c.327-19A>C
NM_138773.4(SLC25A46):c.354T>C (p.His118=) rs748251446
NM_138773.4(SLC25A46):c.426A>C (p.Thr142=) rs758691521
NM_138773.4(SLC25A46):c.426A>G (p.Thr142=)
NM_138773.4(SLC25A46):c.42C>T (p.Tyr14=)
NM_138773.4(SLC25A46):c.435T>C (p.Asn145=)
NM_138773.4(SLC25A46):c.444C>T (p.Tyr148=)
NM_138773.4(SLC25A46):c.462+10T>C rs1580858938
NM_138773.4(SLC25A46):c.462+12G>T
NM_138773.4(SLC25A46):c.468T>C (p.Pro156=) rs2150411201
NM_138773.4(SLC25A46):c.48T>C (p.Gly16=) rs2150404063
NM_138773.4(SLC25A46):c.54C>T (p.Ala18=)
NM_138773.4(SLC25A46):c.563+19C>A
NM_138773.4(SLC25A46):c.563+7T>C
NM_138773.4(SLC25A46):c.620+15A>G
NM_138773.4(SLC25A46):c.620+18G>A
NM_138773.4(SLC25A46):c.620+19C>T
NM_138773.4(SLC25A46):c.621-13T>C
NM_138773.4(SLC25A46):c.621-16G>A
NM_138773.4(SLC25A46):c.621-17T>G
NM_138773.4(SLC25A46):c.621-5T>C
NM_138773.4(SLC25A46):c.678+10T>C rs760016782
NM_138773.4(SLC25A46):c.678+10T>G
NM_138773.4(SLC25A46):c.678+20C>T
NM_138773.4(SLC25A46):c.679-16A>G
NM_138773.4(SLC25A46):c.679-17C>T rs1392231722
NM_138773.4(SLC25A46):c.702T>C (p.Thr234=) rs1183572047
NM_138773.4(SLC25A46):c.709T>C (p.Leu237=)
NM_138773.4(SLC25A46):c.717T>C (p.Cys239=)
NM_138773.4(SLC25A46):c.741G>A (p.Val247=) rs1800241437
NM_138773.4(SLC25A46):c.75C>A (p.Gly25=)
NM_138773.4(SLC25A46):c.762T>C (p.His254=)
NM_138773.4(SLC25A46):c.780G>T (p.Pro260=) rs766154121
NM_138773.4(SLC25A46):c.78C>T (p.Gly26=) rs2150404110
NM_138773.4(SLC25A46):c.813T>C (p.His271=)
NM_138773.4(SLC25A46):c.816A>T (p.Gly272=)
NM_138773.4(SLC25A46):c.859C>T (p.Leu287=)
NM_138773.4(SLC25A46):c.870A>C (p.Leu290=) rs372999666
NM_138773.4(SLC25A46):c.870A>G (p.Leu290=)
NM_138773.4(SLC25A46):c.928T>C (p.Leu310=) rs1800248230
NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup) rs374899270
NM_138773.4(SLC25A46):c.939T>C (p.Tyr313=) rs1188835273
NM_138773.4(SLC25A46):c.945A>C (p.Pro315=)
NM_138773.4(SLC25A46):c.96C>T (p.Ser32=)
NM_138773.4(SLC25A46):c.984C>T (p.Asp328=)
NM_138773.4(SLC25A46):c.999A>G (p.Pro333=)
NM_138773.4(SLC25A46):c.9G>A (p.Pro3=)

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