ClinVar Miner

List of variants in gene INF2 reported as likely benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
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HGVS dbSNP
NM_022489.4(INF2):c.118C>A (p.Arg40=) rs761238349
NM_022489.4(INF2):c.1281_1286del (p.Pro428_Leu429del) rs751555478
NM_022489.4(INF2):c.1305C>T (p.Ala435=) rs1396253816
NM_022489.4(INF2):c.1499C>T (p.Pro500Leu) rs561201601
NM_022489.4(INF2):c.1605G>A (p.Glu535=) rs374316478
NM_022489.4(INF2):c.1736-6C>T rs371991103
NM_022489.4(INF2):c.1770C>T (p.Pro590=) rs549506051
NM_022489.4(INF2):c.1821C>A (p.Ser607=) rs751949801
NM_022489.4(INF2):c.1864C>G (p.Arg622Gly) rs539256832
NM_022489.4(INF2):c.18C>T (p.Gly6=) rs1032255653
NM_022489.4(INF2):c.1956C>T (p.Asn652=) rs767304781
NM_022489.4(INF2):c.1978C>T (p.Arg660Trp) rs138577569
NM_022489.4(INF2):c.2040C>T (p.Pro680=) rs373736329
NM_022489.4(INF2):c.2049C>T (p.His683=) rs760045317
NM_022489.4(INF2):c.2118C>T (p.Leu706=) rs1595173916
NM_022489.4(INF2):c.2145G>A (p.Gln715=) rs1228218526
NM_022489.4(INF2):c.2181G>A (p.Ala727=) rs370830904
NM_022489.4(INF2):c.2184C>T (p.Ala728=) rs564499884
NM_022489.4(INF2):c.2202G>A (p.Val734=) rs376146089
NM_022489.4(INF2):c.2240-9C>T rs759780715
NM_022489.4(INF2):c.2418+8G>A rs778305724
NM_022489.4(INF2):c.2419-8C>A rs372720253
NM_022489.4(INF2):c.246G>A (p.Ala82=) rs377173164
NM_022489.4(INF2):c.2498T>C (p.Leu833Pro) rs575569437
NM_022489.4(INF2):c.2509C>T (p.Arg837Cys) rs201534539
NM_022489.4(INF2):c.2550C>T (p.Thr850=) rs771112980
NM_022489.4(INF2):c.2673G>A (p.Arg891=) rs938468023
NM_022489.4(INF2):c.2682C>T (p.Ala894=) rs770520588
NM_022489.4(INF2):c.2766C>T (p.Arg922=) rs201044782
NM_022489.4(INF2):c.2879-9G>A rs373139405
NM_022489.4(INF2):c.3032C>G (p.Thr1011Arg) rs551015347
NM_022489.4(INF2):c.3041-4C>T rs945997134
NM_022489.4(INF2):c.3102C>T (p.Pro1034=) rs375864368
NM_022489.4(INF2):c.3372C>T (p.Ala1124=) rs769591308
NM_022489.4(INF2):c.3474C>T (p.Ser1158=) rs1555375620
NM_022489.4(INF2):c.3501C>A (p.Gly1167=) rs776977547
NM_022489.4(INF2):c.3519C>T (p.Asp1173=) rs767075044
NM_022489.4(INF2):c.3537G>A (p.Thr1179=) rs758215424
NM_022489.4(INF2):c.354C>T (p.Ile118=) rs771038193
NM_022489.4(INF2):c.3591G>A (p.Ala1197=) rs765090867
NM_022489.4(INF2):c.3591G>T (p.Ala1197=) rs765090867
NM_022489.4(INF2):c.3638G>A (p.Arg1213Gln) rs199801767
NM_022489.4(INF2):c.363C>T (p.Asn121=) rs1174416960
NM_022489.4(INF2):c.3648G>T (p.Lys1216Asn) rs139196357
NM_022489.4(INF2):c.3654C>T (p.Thr1218=) rs557462297
NM_022489.4(INF2):c.366G>A (p.Gln122=) rs770186824
NM_022489.4(INF2):c.3744C>T (p.Ile1248=) rs765432583
NM_022489.4(INF2):c.37G>A (p.Ala13Thr) rs201383094
NM_022489.4(INF2):c.408C>T (p.Asn136=) rs767069639
NM_022489.4(INF2):c.519C>T (p.Ser173=) rs780247558
NM_022489.4(INF2):c.564C>T (p.Ser188=) rs746732992
NM_022489.4(INF2):c.570C>T (p.Asn190=) rs200662352
NM_022489.4(INF2):c.585C>T (p.Val195=) rs759408802
NM_022489.4(INF2):c.597C>T (p.Ser199=) rs372269719
NM_022489.4(INF2):c.639G>A (p.Ala213=) rs149858291
NM_022489.4(INF2):c.67T>A (p.Ser23Thr) rs746964937
NM_022489.4(INF2):c.744C>T (p.Phe248=) rs372799744
NM_022489.4(INF2):c.798C>G (p.Val266=) rs375005967
NM_022489.4(INF2):c.844-6G>A rs370399987
NM_022489.4(INF2):c.885G>A (p.Leu295=) rs370680236
NM_022489.4(INF2):c.942C>T (p.Ala314=) rs774989778
NM_022489.4(INF2):c.945G>A (p.Leu315=) rs1475991845
NM_022489.4(INF2):c.985+10C>T rs755849718

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