ClinVar Miner

List of variants in gene combination LOC101928008, SBF2 reported as likely benign for Charcot-Marie-Tooth disease type 4

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Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00054
NM_030962.4(SBF2):c.1965G>A (p.Thr655=) rs143732754 0.00039
NM_030962.4(SBF2):c.2319G>A (p.Ala773=) rs201547070 0.00016
NM_030962.4(SBF2):c.2536+13C>A rs369035547 0.00012
NM_030962.4(SBF2):c.3056A>T (p.Gln1019Leu) rs201964421 0.00010
NM_030962.4(SBF2):c.2085G>A (p.Pro695=) rs148241076 0.00009
NM_030962.4(SBF2):c.3111-9G>A rs200045139 0.00009
NM_030962.4(SBF2):c.2070A>G (p.Glu690=) rs201247796 0.00008
NM_030962.4(SBF2):c.2436C>T (p.Ala812=) rs374225152 0.00007
NM_030962.4(SBF2):c.3455+9G>A rs372886234 0.00007
NM_030962.4(SBF2):c.2451G>T (p.Arg817=) rs775803946 0.00006
NM_030962.4(SBF2):c.2598G>A (p.Pro866=) rs376372877 0.00006
NM_030962.4(SBF2):c.2536+16A>G rs200967111 0.00005
NM_030962.4(SBF2):c.1929+7T>C rs777170105 0.00004
NM_030962.4(SBF2):c.2787A>T (p.Gly929=) rs777826645 0.00004
NM_030962.4(SBF2):c.3087G>A (p.Gln1029=) rs775337881 0.00004
NM_030962.4(SBF2):c.2160A>G (p.Gln720=) rs1247703447 0.00003
NM_030962.4(SBF2):c.1861-7C>T rs199559894 0.00002
NM_030962.4(SBF2):c.1971A>G (p.Val657=) rs368639697 0.00002
NM_030962.4(SBF2):c.2304C>T (p.Leu768=) rs758341369 0.00002
NM_030962.4(SBF2):c.2397A>G (p.Thr799=) rs759550730 0.00002
NM_030962.4(SBF2):c.2481T>C (p.Cys827=) rs777916307 0.00002
NM_030962.4(SBF2):c.2806+10G>A rs761936469 0.00002
NM_030962.4(SBF2):c.2807-8A>G rs762580844 0.00002
NM_030962.4(SBF2):c.2935-15C>G rs967262284 0.00002
NM_030962.4(SBF2):c.3256+15G>C rs774896771 0.00002
NM_030962.4(SBF2):c.1893C>T (p.Ala631=) rs760154688 0.00001
NM_030962.4(SBF2):c.2100+7G>A rs370918433 0.00001
NM_030962.4(SBF2):c.2181G>A (p.Leu727=) rs1376193402 0.00001
NM_030962.4(SBF2):c.2259C>T (p.Leu753=) rs771467991 0.00001
NM_030962.4(SBF2):c.2269C>T (p.Leu757=) rs370321615 0.00001
NM_030962.4(SBF2):c.2283C>T (p.Leu761=) rs781716972 0.00001
NM_030962.4(SBF2):c.2394T>C (p.Asp798=) rs767309728 0.00001
NM_030962.4(SBF2):c.2523T>C (p.His841=) rs143617524 0.00001
NM_030962.4(SBF2):c.2610+11A>G rs375912268 0.00001
NM_030962.4(SBF2):c.2619T>C (p.Ile873=) rs1168090388 0.00001
NM_030962.4(SBF2):c.2806+20C>T rs760777294 0.00001
NM_030962.4(SBF2):c.2807-10C>G rs1392834610 0.00001
NM_030962.4(SBF2):c.2934+7A>C rs1475155503 0.00001
NM_030962.4(SBF2):c.3165T>C (p.Ile1055=) rs1478321308 0.00001
NM_030962.4(SBF2):c.3189G>A (p.Lys1063=) rs889481914 0.00001
NM_030962.4(SBF2):c.3257-10A>T rs1348371983 0.00001
NM_030962.4(SBF2):c.1861-9T>C rs2134134508
NM_030962.4(SBF2):c.1893C>G (p.Ala631=) rs760154688
NM_030962.4(SBF2):c.1929+13G>C
NM_030962.4(SBF2):c.1930-10G>T rs765561519
NM_030962.4(SBF2):c.1930-6T>G
NM_030962.4(SBF2):c.1930-9T>C
NM_030962.4(SBF2):c.1930-9T>G rs1857476118
NM_030962.4(SBF2):c.2010G>A (p.Glu670=)
NM_030962.4(SBF2):c.2016C>G (p.Thr672=)
NM_030962.4(SBF2):c.2031G>A (p.Val677=)
NM_030962.4(SBF2):c.2058C>G (p.Leu686=)
NM_030962.4(SBF2):c.2058C>T (p.Leu686=) rs895655461
NM_030962.4(SBF2):c.2079T>C (p.His693=)
NM_030962.4(SBF2):c.2100+17_2100+19dup rs751432798
NM_030962.4(SBF2):c.2101-14G>T
NM_030962.4(SBF2):c.2112T>A (p.Pro704=) rs1857340727
NM_030962.4(SBF2):c.2161C>T (p.Leu721=) rs2134001499
NM_030962.4(SBF2):c.2178C>A (p.Thr726=) rs1590234812
NM_030962.4(SBF2):c.2205A>G (p.Leu735=)
NM_030962.4(SBF2):c.2220A>G (p.Glu740=)
NM_030962.4(SBF2):c.2244T>C (p.Ile748=)
NM_030962.4(SBF2):c.2289A>G (p.Thr763=)
NM_030962.4(SBF2):c.2325T>C (p.Gly775=)
NM_030962.4(SBF2):c.2325T>G (p.Gly775=) rs2134000781
NM_030962.4(SBF2):c.2358A>C (p.Thr786=)
NM_030962.4(SBF2):c.2363+11G>A rs2134000617
NM_030962.4(SBF2):c.2363+20C>A
NM_030962.4(SBF2):c.2364-7G>T
NM_030962.4(SBF2):c.2445T>C (p.Val815=)
NM_030962.4(SBF2):c.2448G>A (p.Val816=)
NM_030962.4(SBF2):c.2472C>T (p.Asp824=)
NM_030962.4(SBF2):c.2499T>G (p.Thr833=) rs1236236536
NM_030962.4(SBF2):c.2536+14A>G
NM_030962.4(SBF2):c.2536+18A>C
NM_030962.4(SBF2):c.2537-4del rs1252682513
NM_030962.4(SBF2):c.2574A>G (p.Val858=)
NM_030962.4(SBF2):c.2578C>A (p.Arg860=) rs764814296
NM_030962.4(SBF2):c.2601T>C (p.Pro867=)
NM_030962.4(SBF2):c.2610+10G>A
NM_030962.4(SBF2):c.2610+12C>T
NM_030962.4(SBF2):c.2610+16A>G
NM_030962.4(SBF2):c.2610+19C>T
NM_030962.4(SBF2):c.2611-16C>A
NM_030962.4(SBF2):c.2611-18A>C
NM_030962.4(SBF2):c.2611-18A>T
NM_030962.4(SBF2):c.2611-35AATC[3]
NM_030962.4(SBF2):c.2611-35AATC[4] rs202029370
NM_030962.4(SBF2):c.2611-5G>A
NM_030962.4(SBF2):c.2611-5G>T rs1590218785
NM_030962.4(SBF2):c.2611-9T>C
NM_030962.4(SBF2):c.2685T>C (p.Pro895=) rs1409235455
NM_030962.4(SBF2):c.2709A>C (p.Gly903=) rs140152705
NM_030962.4(SBF2):c.2742A>G (p.Ala914=) rs2133981778
NM_030962.4(SBF2):c.2806+18A>G
NM_030962.4(SBF2):c.2806+8T>G
NM_030962.4(SBF2):c.2807-11T>G
NM_030962.4(SBF2):c.2838C>T (p.Pro946=)
NM_030962.4(SBF2):c.2844C>G (p.Ala948=) rs762600096
NM_030962.4(SBF2):c.2844C>T (p.Ala948=) rs762600096
NM_030962.4(SBF2):c.2886A>C (p.Leu962=)
NM_030962.4(SBF2):c.2904A>G (p.Glu968=)
NM_030962.4(SBF2):c.2907A>G (p.Gly969=) rs1057523299
NM_030962.4(SBF2):c.2908C>T (p.Leu970=) rs1370817659
NM_030962.4(SBF2):c.2934+15A>G rs1461263560
NM_030962.4(SBF2):c.2934+16G>A
NM_030962.4(SBF2):c.2934+17C>G
NM_030962.4(SBF2):c.2934+18del rs751526911
NM_030962.4(SBF2):c.2935-12T>C
NM_030962.4(SBF2):c.2935-15C>T
NM_030962.4(SBF2):c.3000G>A (p.Leu1000=) rs1564908294
NM_030962.4(SBF2):c.3015T>C (p.Tyr1005=) rs1554922354
NM_030962.4(SBF2):c.3021G>A (p.Gln1007=)
NM_030962.4(SBF2):c.3030C>T (p.Phe1010=) rs2133969868
NM_030962.4(SBF2):c.3033T>C (p.Ser1011=)
NM_030962.4(SBF2):c.3057A>G (p.Gln1019=)
NM_030962.4(SBF2):c.3093A>G (p.Glu1031=)
NM_030962.4(SBF2):c.3099C>T (p.Asn1033=) rs139437755
NM_030962.4(SBF2):c.3110+10_3110+13del
NM_030962.4(SBF2):c.3110+14C>A
NM_030962.4(SBF2):c.3111-11A>C
NM_030962.4(SBF2):c.3111-7C>T
NM_030962.4(SBF2):c.3135A>G (p.Lys1045=) rs1554920965
NM_030962.4(SBF2):c.3153G>A (p.Gly1051=)
NM_030962.4(SBF2):c.3231A>G (p.Gly1077=) rs199985349
NM_030962.4(SBF2):c.3256+12C>T
NM_030962.4(SBF2):c.3256+8A>C rs1856241835
NM_030962.4(SBF2):c.3257-10A>G rs1348371983
NM_030962.4(SBF2):c.3257-16_3257-15del
NM_030962.4(SBF2):c.3257-18C>G
NM_030962.4(SBF2):c.3257-9C>T
NM_030962.4(SBF2):c.3261A>C (p.Ser1087=)
NM_030962.4(SBF2):c.3279C>T (p.Pro1093=)
NM_030962.4(SBF2):c.3288C>T (p.Thr1096=) rs2942403
NM_030962.4(SBF2):c.3292C>T (p.Leu1098=) rs117957652
NM_030962.4(SBF2):c.3357G>A (p.Gln1119=)
NM_030962.4(SBF2):c.3450C>T (p.Cys1150=) rs377608130
NM_030962.4(SBF2):c.3455+20C>T rs760955204

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