ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2B by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
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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.*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.*1029A>G rs776759455 0.00007
NM_004637.6(RAB7A):c.*165A>T rs886057942 0.00007
NM_004637.6(RAB7A):c.*1141C>T rs192329045 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.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.*1343C>T rs576597041 0.00002
NM_004637.6(RAB7A):c.*702T>G rs886057947 0.00002
NM_004637.6(RAB7A):c.*831A>G rs1432428820 0.00001
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.277C>T (p.Pro93Ser) rs11549756
NM_004637.6(RAB7A):c.456T>G (p.Phe152Leu) rs1933833236
NM_004637.6(RAB7A):c.54-15T>C rs748552184

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