ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2B

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ClinVar version:
Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_004637.6(RAB7A):c.*863C>G rs59753334 0.06155
NM_004637.6(RAB7A):c.*189A>G rs11549750 0.05501
NM_004637.6(RAB7A):c.219C>T (p.Leu73=) rs4548 0.04279
NM_004637.6(RAB7A):c.*181G>A rs3206306 0.03706
NM_004637.6(RAB7A):c.*997T>C rs3755593 0.03614
NM_004637.6(RAB7A):c.*183A>G rs774054837 0.03357
NM_004637.6(RAB7A):c.*206G>A rs16851333 0.01808
NM_004637.6(RAB7A):c.-97C>G rs141622970 0.01485
NM_004637.6(RAB7A):c.-29G>T rs112000804 0.01334
NM_004637.6(RAB7A):c.*163T>G rs182521602 0.00395
NM_004637.6(RAB7A):c.495G>A (p.Ala165=) rs146566121 0.00341
NM_004637.6(RAB7A):c.423C>G (p.Ala141=) rs61758751 0.00210
NM_004637.6(RAB7A):c.*85A>G rs549333234 0.00085
NM_004637.6(RAB7A):c.*274G>A rs565849348 0.00083
NM_004637.6(RAB7A):c.87G>A (p.Val29=) rs145441548 0.00039
NM_004637.6(RAB7A):c.*625T>C rs545004919 0.00025
NM_004637.5(RAB7A):c.-215C>T rs560785742 0.00022
NM_004637.6(RAB7A):c.*402T>A rs950767971 0.00021
NM_004637.6(RAB7A):c.552C>T (p.Asn184=) rs143140848 0.00011
NM_004637.6(RAB7A):c.603G>A (p.Ser201=) rs61748098 0.00011
NM_004637.6(RAB7A):c.*1142G>A rs747470481 0.00009
NM_004637.6(RAB7A):c.*989C>G rs1039323764 0.00009
NM_004637.6(RAB7A):c.-115C>T rs374777610 0.00009
NM_004637.6(RAB7A):c.*165A>T rs886057942 0.00007
NM_004637.6(RAB7A):c.213G>A (p.Gln71=) rs140299645 0.00007
NM_004637.6(RAB7A):c.*1029A>G rs776759455 0.00006
NM_004637.6(RAB7A):c.*1141C>T rs192329045 0.00006
NM_004637.6(RAB7A):c.180+9A>G rs762831187 0.00006
NM_004637.6(RAB7A):c.205C>A (p.Arg69=) rs963655960 0.00006
NM_004637.6(RAB7A):c.*1301A>G rs182528613 0.00004
NM_004637.6(RAB7A):c.*956G>A rs1421148594 0.00004
NM_004637.6(RAB7A):c.-18A>G rs886057941 0.00004
NM_004637.6(RAB7A):c.54-20T>C rs370926984 0.00004
NM_004637.6(RAB7A):c.568A>G (p.Ile190Val) rs147480945 0.00004
NM_004637.6(RAB7A):c.*1344G>A rs763557372 0.00003
NM_004637.6(RAB7A):c.*1374G>A rs539522952 0.00003
NM_004637.6(RAB7A):c.503C>T (p.Thr168Met) rs141978327 0.00003
NM_004637.6(RAB7A):c.506T>C (p.Ile169Thr) rs375630134 0.00003
NM_004637.6(RAB7A):c.54-17T>C rs1057523037 0.00003
NM_004637.6(RAB7A):c.551A>G (p.Asn184Ser) rs752824265 0.00003
NM_004637.6(RAB7A):c.602C>T (p.Ser201Leu) rs866854462 0.00003
NM_004637.6(RAB7A):c.*1343C>T rs576597041 0.00002
NM_004637.6(RAB7A):c.*702T>G rs886057947 0.00002
NM_004637.6(RAB7A):c.167T>C (p.Leu56Pro) rs775104487 0.00002
NM_004637.6(RAB7A):c.183A>C (p.Ile61=) rs376642691 0.00002
NM_004637.6(RAB7A):c.504G>A (p.Thr168=) rs929339942 0.00002
NM_004637.6(RAB7A):c.508G>A (p.Ala170Thr) rs750766845 0.00002
NM_004637.6(RAB7A):c.529-14G>C rs773589267 0.00002
NM_004637.6(RAB7A):c.577G>A (p.Asp193Asn) rs756968558 0.00002
NM_004637.6(RAB7A):c.6C>G (p.Thr2=) rs1053225393 0.00002
NM_004637.6(RAB7A):c.*831A>G rs1432428820 0.00001
NM_004637.6(RAB7A):c.152T>C (p.Met51Thr) rs769771992 0.00001
NM_004637.6(RAB7A):c.174A>G (p.Thr58=) rs1933611219 0.00001
NM_004637.6(RAB7A):c.18A>G (p.Lys6=) rs1183281292 0.00001
NM_004637.6(RAB7A):c.21G>A (p.Val7=) rs140857794 0.00001
NM_004637.6(RAB7A):c.252C>T (p.Cys84=) rs778176566 0.00001
NM_004637.6(RAB7A):c.321C>T (p.Leu107=) rs749227632 0.00001
NM_004637.6(RAB7A):c.400-10C>T rs756353516 0.00001
NM_004637.6(RAB7A):c.481A>G (p.Asn161Asp) rs963894786 0.00001
NM_004637.6(RAB7A):c.482A>G (p.Asn161Ser) rs121909080 0.00001
NM_004637.6(RAB7A):c.533C>T (p.Thr178Met) rs142747565 0.00001
NM_004637.6(RAB7A):c.543G>A (p.Glu181=) rs887111279 0.00001
NM_004637.6(RAB7A):c.590G>A (p.Arg197Gln) rs779472408 0.00001
NC_000003.11:g.(?_128514201)_(128631967_?)dup
NM_004637.5(RAB7A):c.-204G>T rs886057938
NM_004637.6(RAB7A):c.*1026G>A rs376185459
NM_004637.6(RAB7A):c.*1079C>T rs141066124
NM_004637.6(RAB7A):c.*1161C>T rs886057952
NM_004637.6(RAB7A):c.*1219C>T rs1036501286
NM_004637.6(RAB7A):c.*229C>T rs147244704
NM_004637.6(RAB7A):c.*317A>G rs1933980298
NM_004637.6(RAB7A):c.*473G>C rs886057945
NM_004637.6(RAB7A):c.*700C>T rs886057946
NM_004637.6(RAB7A):c.*819C>A rs772662283
NM_004637.6(RAB7A):c.*846A>G rs532629721
NM_004637.6(RAB7A):c.*908A>C rs546868558
NM_004637.6(RAB7A):c.*922A>G rs886057949
NM_004637.6(RAB7A):c.*929A>T rs886057950
NM_004637.6(RAB7A):c.*974A>G rs1933994920
NM_004637.6(RAB7A):c.*997T>G rs3755593
NM_004637.6(RAB7A):c.-146G>C rs1044292082
NM_004637.6(RAB7A):c.-154G>A rs886057939
NM_004637.6(RAB7A):c.-61G>A rs2070377358
NM_004637.6(RAB7A):c.138G>C (p.Leu46=)
NM_004637.6(RAB7A):c.148G>A (p.Val50Met) rs1933610846
NM_004637.6(RAB7A):c.151A>G (p.Met51Val)
NM_004637.6(RAB7A):c.180+4A>T rs1933611370
NM_004637.6(RAB7A):c.180+7A>G rs1235702497
NM_004637.6(RAB7A):c.181-3C>T rs1411160897
NM_004637.6(RAB7A):c.181-4A>T rs1576303639
NM_004637.6(RAB7A):c.181-9C>T
NM_004637.6(RAB7A):c.249C>T (p.Cys83=)
NM_004637.6(RAB7A):c.277C>T (p.Pro93Ser) rs11549756
NM_004637.6(RAB7A):c.294C>G (p.Thr98=)
NM_004637.6(RAB7A):c.300T>C (p.Asp100=)
NM_004637.6(RAB7A):c.311A>G (p.Asp104Gly)
NM_004637.6(RAB7A):c.351C>G (p.Asn117Lys)
NM_004637.6(RAB7A):c.357A>G (p.Pro119=) rs1576303724
NM_004637.6(RAB7A):c.366G>T (p.Val122=)
NM_004637.6(RAB7A):c.375C>T (p.Asn125=) rs2107615696
NM_004637.6(RAB7A):c.377A>G (p.Lys126Arg) rs1933806941
NM_004637.6(RAB7A):c.385C>T (p.Leu129Phe) rs121909078
NM_004637.6(RAB7A):c.399+12C>T
NM_004637.6(RAB7A):c.399+14A>G
NM_004637.6(RAB7A):c.399+17A>C
NM_004637.6(RAB7A):c.399+19A>G rs2107615708
NM_004637.6(RAB7A):c.400-11T>G
NM_004637.6(RAB7A):c.400-13CTT[2]
NM_004637.6(RAB7A):c.400-15T>G
NM_004637.6(RAB7A):c.400-16C>G
NM_004637.6(RAB7A):c.400-17C>G rs762146227
NM_004637.6(RAB7A):c.400-6T>C
NM_004637.6(RAB7A):c.403G>A (p.Ala135Thr) rs368804888
NM_004637.6(RAB7A):c.414G>T (p.Arg138=) rs754928233
NM_004637.6(RAB7A):c.421G>A (p.Ala141Thr)
NM_004637.6(RAB7A):c.434G>A (p.Ser145Asn) rs2107616079
NM_004637.6(RAB7A):c.448C>A (p.Pro150Thr) rs1320514833
NM_004637.6(RAB7A):c.456T>G (p.Phe152Leu) rs1933833236
NM_004637.6(RAB7A):c.464G>A (p.Ser155Asn)
NM_004637.6(RAB7A):c.466G>A (p.Ala156Thr) rs1576304176
NM_004637.6(RAB7A):c.467C>G (p.Ala156Gly) rs2107616088
NM_004637.6(RAB7A):c.467C>T (p.Ala156Val)
NM_004637.6(RAB7A):c.471G>C (p.Lys157Asn) rs121909081
NM_004637.6(RAB7A):c.471G>T (p.Lys157Asn) rs121909081
NM_004637.6(RAB7A):c.482A>C (p.Asn161Thr) rs121909080
NM_004637.6(RAB7A):c.482A>T (p.Asn161Ile) rs121909080
NM_004637.6(RAB7A):c.484G>A (p.Val162Met) rs121909079
NM_004637.6(RAB7A):c.489G>C (p.Glu163Asp)
NM_004637.6(RAB7A):c.528+20C>T
NM_004637.6(RAB7A):c.528+2dup
NM_004637.6(RAB7A):c.528+9C>T rs766544504
NM_004637.6(RAB7A):c.529-20T>G
NM_004637.6(RAB7A):c.529-6G>A rs2107618412
NM_004637.6(RAB7A):c.53+14G>T
NM_004637.6(RAB7A):c.53+7T>C rs1933544756
NM_004637.6(RAB7A):c.53+9C>G
NM_004637.6(RAB7A):c.531A>G (p.Glu177=) rs2107618413
NM_004637.6(RAB7A):c.534G>A (p.Thr178=) rs766818777
NM_004637.6(RAB7A):c.54-15T>C rs748552184
NM_004637.6(RAB7A):c.54-9C>T
NM_004637.6(RAB7A):c.544C>A (p.Leu182Met)
NM_004637.6(RAB7A):c.544C>G (p.Leu182Val)
NM_004637.6(RAB7A):c.570C>G (p.Ile190Met)
NM_004637.6(RAB7A):c.572A>G (p.Lys191Arg) rs2107618433
NM_004637.6(RAB7A):c.57C>T (p.Val19=)
NM_004637.6(RAB7A):c.589C>G (p.Arg197Gly) rs745507763
NM_004637.6(RAB7A):c.589C>T (p.Arg197Trp) rs745507763
NM_004637.6(RAB7A):c.591G>C (p.Arg197=)
NM_004637.6(RAB7A):c.592G>A (p.Ala198Thr)
NM_004637.6(RAB7A):c.592G>T (p.Ala198Ser) rs748832566
NM_004637.6(RAB7A):c.603G>C (p.Ser201=) rs61748098
NM_004637.6(RAB7A):c.605C>G (p.Ala202Gly) rs2107618449
NM_004637.6(RAB7A):c.621C>T (p.Cys207=)
NM_004637.6(RAB7A):c.74T>C (p.Met25Thr)
NM_004637.6(RAB7A):c.89A>G (p.Asn30Ser)
NM_004637.6(RAB7A):c.99C>T (p.Phe33=)

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