ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease axonal type 2O by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 144
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HGVS dbSNP
NM_001376.5(DYNC1H1):c.10131C>T (p.Tyr3377=) rs1555411373
NM_001376.5(DYNC1H1):c.10198-4C>A rs1555411389
NM_001376.5(DYNC1H1):c.10212C>T (p.Asp3404=) rs371853975
NM_001376.5(DYNC1H1):c.10356C>T (p.Ala3452=) rs758827732
NM_001376.5(DYNC1H1):c.10473A>G (p.Lys3491=) rs201109134
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=) rs548760128
NM_001376.5(DYNC1H1):c.10536G>A (p.Ala3512=) rs1060504512
NM_001376.5(DYNC1H1):c.10650G>A (p.Thr3550=) rs143068719
NM_001376.5(DYNC1H1):c.10908+10G>A rs201277756
NM_001376.5(DYNC1H1):c.11046G>A (p.Arg3682=) rs370397467
NM_001376.5(DYNC1H1):c.11388C>T (p.Thr3796=) rs149806996
NM_001376.5(DYNC1H1):c.11461-9_11461-8insG rs762712158
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=) rs200735835
NM_001376.5(DYNC1H1):c.11532G>A (p.Pro3844=) rs372511563
NM_001376.5(DYNC1H1):c.11565C>T (p.Arg3855=) rs1555411851
NM_001376.5(DYNC1H1):c.11596-7G>A rs375593873
NM_001376.5(DYNC1H1):c.11691-10C>T rs771362494
NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=) rs17540735
NM_001376.5(DYNC1H1):c.1179C>A (p.Leu393=) rs780971776
NM_001376.5(DYNC1H1):c.11802G>C (p.Ala3934=) rs151307859
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) rs373636519
NM_001376.5(DYNC1H1):c.12103-9T>C rs939623360
NM_001376.5(DYNC1H1):c.12117T>C (p.Thr4039=) rs368830742
NM_001376.5(DYNC1H1):c.12156T>C (p.Ser4052=) rs1060504511
NM_001376.5(DYNC1H1):c.12180C>T (p.Ala4060=) rs754694929
NM_001376.5(DYNC1H1):c.12264A>C (p.Val4088=) rs1041126638
NM_001376.5(DYNC1H1):c.12270G>A (p.Ser4090=) rs549895432
NM_001376.5(DYNC1H1):c.12276-5T>C rs1555412076
NM_001376.5(DYNC1H1):c.12345C>T (p.Ser4115=) rs774128776
NM_001376.5(DYNC1H1):c.123G>A (p.Leu41=) rs1260546515
NM_001376.5(DYNC1H1):c.12441C>T (p.Phe4147=) rs146075696
NM_001376.5(DYNC1H1):c.12450G>A (p.Pro4150=) rs749647281
NM_001376.5(DYNC1H1):c.12519C>T (p.Pro4173=) rs1489755183
NM_001376.5(DYNC1H1):c.12580T>C (p.Leu4194=) rs753248251
NM_001376.5(DYNC1H1):c.12663G>A (p.Thr4221=) rs145849008
NM_001376.5(DYNC1H1):c.1266T>C (p.Thr422=) rs1288014241
NM_001376.5(DYNC1H1):c.12685-3C>T rs149824412
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795
NM_001376.5(DYNC1H1):c.12765C>T (p.Arg4255=) rs780271275
NM_001376.5(DYNC1H1):c.12849G>A (p.Lys4283=) rs751398567
NM_001376.5(DYNC1H1):c.13059C>T (p.Asp4353=) rs773232010
NM_001376.5(DYNC1H1):c.13107G>A (p.Thr4369=) rs369577172
NM_001376.5(DYNC1H1):c.13113C>T (p.Asp4371=) rs372518648
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483
NM_001376.5(DYNC1H1):c.13176C>T (p.Pro4392=) rs766805479
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055
NM_001376.5(DYNC1H1):c.13192C>T (p.Leu4398Phe) rs144570049
NM_001376.5(DYNC1H1):c.13203C>A (p.Thr4401=) rs138022242
NM_001376.5(DYNC1H1):c.13315G>A (p.Glu4439Lys) rs142883042
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479
NM_001376.5(DYNC1H1):c.13515+8C>T rs200901713
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=) rs35546990
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=) rs147580834
NM_001376.5(DYNC1H1):c.13794C>T (p.Thr4598=) rs765791872
NM_001376.5(DYNC1H1):c.13808G>T (p.Ser4603Ile) rs200731839
NM_001376.5(DYNC1H1):c.13887G>A (p.Lys4629=) rs141961494
NM_001376.5(DYNC1H1):c.1410A>G (p.Arg470=) rs1060504508
NM_001376.5(DYNC1H1):c.1479A>G (p.Gln493=) rs761306770
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810
NM_001376.5(DYNC1H1):c.1911C>T (p.His637=) rs376398498
NM_001376.5(DYNC1H1):c.1929T>C (p.Pro643=) rs1555408339
NM_001376.5(DYNC1H1):c.2040G>A (p.Gln680=) rs1555408347
NM_001376.5(DYNC1H1):c.2115G>A (p.Lys705=) rs1555408353
NM_001376.5(DYNC1H1):c.213C>T (p.Asp71=) rs763561186
NM_001376.5(DYNC1H1):c.2160C>T (p.Ile720=) rs763236829
NM_001376.5(DYNC1H1):c.2175T>C (p.Val725=) rs757752556
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963
NM_001376.5(DYNC1H1):c.2539-9T>C rs750362256
NM_001376.5(DYNC1H1):c.261C>T (p.Asp87=) rs75113705
NM_001376.5(DYNC1H1):c.2652A>G (p.Ala884=) rs762508534
NM_001376.5(DYNC1H1):c.2719-9_2719-7del rs566271356
NM_001376.5(DYNC1H1):c.2922A>G (p.Pro974=) rs963837216
NM_001376.5(DYNC1H1):c.3096C>G (p.Ala1032=) rs1060504507
NM_001376.5(DYNC1H1):c.3249G>A (p.Leu1083=) rs767157510
NM_001376.5(DYNC1H1):c.3414C>T (p.Asn1138=) rs772761222
NM_001376.5(DYNC1H1):c.345-4T>G rs1060504510
NM_001376.5(DYNC1H1):c.3480G>A (p.Thr1160=) rs776275624
NM_001376.5(DYNC1H1):c.3642C>T (p.Ile1214=) rs778273904
NM_001376.5(DYNC1H1):c.3804+9C>T rs377635872
NM_001376.5(DYNC1H1):c.3909G>T (p.Ala1303=) rs34690489
NM_001376.5(DYNC1H1):c.4075-5G>A rs750127672
NM_001376.5(DYNC1H1):c.4095C>G (p.Ala1365=) rs753684857
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile) rs143421325
NM_001376.5(DYNC1H1):c.4176T>C (p.Gly1392=) rs112261870
NM_001376.5(DYNC1H1):c.4296C>G (p.Gly1432=) rs150374820
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) rs533327200
NM_001376.5(DYNC1H1):c.4341G>A (p.Lys1447=) rs780278262
NM_001376.5(DYNC1H1):c.4428C>T (p.Asp1476=) rs756763142
NM_001376.5(DYNC1H1):c.4543-7C>T rs1555409395
NM_001376.5(DYNC1H1):c.457A>G (p.Ile153Val) rs140905741
NM_001376.5(DYNC1H1):c.4732C>T (p.Leu1578=) rs143297786
NM_001376.5(DYNC1H1):c.4749C>T (p.Ser1583=) rs374033335
NM_001376.5(DYNC1H1):c.501G>A (p.Glu167=) rs1555407893
NM_001376.5(DYNC1H1):c.5238+7T>C rs746205822
NM_001376.5(DYNC1H1):c.5316T>C (p.Gly1772=) rs761933814
NM_001376.5(DYNC1H1):c.546T>G (p.Val182=) rs762857766
NM_001376.5(DYNC1H1):c.5700G>A (p.Leu1900=) rs552313071
NM_001376.5(DYNC1H1):c.5721T>G (p.Pro1907=) rs1555409674
NM_001376.5(DYNC1H1):c.5907G>T (p.Ser1969=) rs758999145
NM_001376.5(DYNC1H1):c.6267T>A (p.Gly2089=) rs374997831
NM_001376.5(DYNC1H1):c.6381T>C (p.Ile2127=) rs759525537
NM_001376.5(DYNC1H1):c.6399A>G (p.Glu2133=) rs769782375
NM_001376.5(DYNC1H1):c.6406-4G>A rs374602014
NM_001376.5(DYNC1H1):c.6406-4G>C rs374602014
NM_001376.5(DYNC1H1):c.6535C>A (p.Arg2179=) rs147905977
NM_001376.5(DYNC1H1):c.657G>A (p.Gln219=) rs374440380
NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=) rs200339812
NM_001376.5(DYNC1H1):c.6857+10_6857+12del rs773209855
NM_001376.5(DYNC1H1):c.6870C>T (p.Ser2290=) rs768991876
NM_001376.5(DYNC1H1):c.6909C>T (p.Phe2303=) rs138326082
NM_001376.5(DYNC1H1):c.6981G>A (p.Leu2327=) rs1555410008
NM_001376.5(DYNC1H1):c.7224C>T (p.Ala2408=) rs587780330
NM_001376.5(DYNC1H1):c.7275G>A (p.Pro2425=) rs141665695
NM_001376.5(DYNC1H1):c.7284G>A (p.Thr2428=) rs762065704
NM_001376.5(DYNC1H1):c.7317C>T (p.His2439=) rs200197781
NM_001376.5(DYNC1H1):c.7566G>A (p.Thr2522=) rs747067301
NM_001376.5(DYNC1H1):c.78C>T (p.Asp26=) rs760083766
NM_001376.5(DYNC1H1):c.8145C>T (p.Pro2715=) rs200413541
NM_001376.5(DYNC1H1):c.8178-8G>C rs758234041
NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=) rs202023896
NM_001376.5(DYNC1H1):c.8401A>C (p.Arg2801=) rs771269792
NM_001376.5(DYNC1H1):c.8427G>A (p.Ala2809=) rs534435923
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737
NM_001376.5(DYNC1H1):c.8502A>G (p.Gln2834=) rs146220233
NM_001376.5(DYNC1H1):c.8547C>T (p.Asn2849=) rs149526821
NM_001376.5(DYNC1H1):c.8551G>A (p.Asp2851Asn) rs780522040
NM_001376.5(DYNC1H1):c.8637+9C>T rs202042156
NM_001376.5(DYNC1H1):c.8638-7T>C rs201446705
NM_001376.5(DYNC1H1):c.8754C>T (p.His2918=) rs758989267
NM_001376.5(DYNC1H1):c.8772-7G>A rs758936427
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029
NM_001376.5(DYNC1H1):c.8862C>T (p.Asn2954=) rs755723273
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=) rs145208135
NM_001376.5(DYNC1H1):c.9108G>A (p.Gly3036=) rs1555410937
NM_001376.5(DYNC1H1):c.9171G>A (p.Gln3057=) rs201041097
NM_001376.5(DYNC1H1):c.9180C>T (p.Arg3060=) rs1555410949
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=) rs201817995
NM_001376.5(DYNC1H1):c.9249A>G (p.Pro3083=) rs1555410963
NM_001376.5(DYNC1H1):c.9304C>T (p.Leu3102=) rs1060504513
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=) rs142338762
NM_001376.5(DYNC1H1):c.9402G>A (p.Pro3134=) rs145095254
NM_001376.5(DYNC1H1):c.9564C>T (p.His3188=) rs202053613
NM_001376.5(DYNC1H1):c.9573G>A (p.Arg3191=) rs1555411131

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