ClinVar Miner

List of variants in gene combination DYNC1H1, LOC126862060 reported as likely benign for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.9171G>A (p.Gln3057=) rs201041097 0.00022
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=) rs145208135 0.00021
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=) rs142338762 0.00011
NM_001376.5(DYNC1H1):c.8988A>G (p.Glu2996=) rs149327058 0.00007
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg) rs774806132 0.00006
NM_001376.5(DYNC1H1):c.9402G>A (p.Pro3134=) rs145095254 0.00006
NM_001376.5(DYNC1H1):c.9048+20C>T rs775898480 0.00005
NM_001376.5(DYNC1H1):c.9072C>T (p.Asp3024=) rs372493817 0.00004
NM_001376.5(DYNC1H1):c.9049-17A>G rs202002525 0.00003
NM_001376.5(DYNC1H1):c.9049-19G>T rs369055747 0.00003
NM_001376.5(DYNC1H1):c.9075G>A (p.Glu3025=) rs777623931 0.00003
NM_001376.5(DYNC1H1):c.9300A>G (p.Glu3100=) rs148753855 0.00003
NM_001376.5(DYNC1H1):c.9000A>G (p.Leu3000=) rs754834522 0.00002
NM_001376.5(DYNC1H1):c.9189C>T (p.His3063=) rs373124911 0.00002
NM_001376.5(DYNC1H1):c.9216G>A (p.Ser3072=) rs752518392 0.00002
NM_001376.5(DYNC1H1):c.9263+4C>T rs375319205 0.00002
NM_001376.5(DYNC1H1):c.9330A>G (p.Thr3110=) rs371538443 0.00002
NM_001376.5(DYNC1H1):c.8930G>A (p.Arg2977Gln) rs779621100 0.00001
NM_001376.5(DYNC1H1):c.8934A>G (p.Thr2978=) rs1192641956 0.00001
NM_001376.5(DYNC1H1):c.9030C>T (p.Thr3010=) rs750413212 0.00001
NM_001376.5(DYNC1H1):c.9048+14G>A rs200027905 0.00001
NM_001376.5(DYNC1H1):c.9048+19G>A rs2048464169 0.00001
NM_001376.5(DYNC1H1):c.9054T>C (p.Pro3018=) rs746598763 0.00001
NM_001376.5(DYNC1H1):c.9192C>T (p.Val3064=) rs1434845724 0.00001
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=) rs201817995 0.00001
NM_001376.5(DYNC1H1):c.9249A>G (p.Pro3083=) rs1555410963 0.00001
NM_001376.5(DYNC1H1):c.9403C>A (p.Gln3135Lys) rs1049866462 0.00001
NM_001376.5(DYNC1H1):c.9468+20C>G rs760693848 0.00001
NM_001376.5(DYNC1H1):c.8887-14C>T
NM_001376.5(DYNC1H1):c.8887-17T>C rs2152589028
NM_001376.5(DYNC1H1):c.8889C>G (p.Val2963=)
NM_001376.5(DYNC1H1):c.8892T>C (p.His2964=) rs2152589034
NM_001376.5(DYNC1H1):c.8907G>C (p.Gly2969=)
NM_001376.5(DYNC1H1):c.8925T>C (p.Asp2975=) rs1333836442
NM_001376.5(DYNC1H1):c.8931G>A (p.Arg2977=)
NM_001376.5(DYNC1H1):c.8937G>A (p.Val2979=)
NM_001376.5(DYNC1H1):c.8937G>T (p.Val2979=)
NM_001376.5(DYNC1H1):c.8964A>G (p.Glu2988=)
NM_001376.5(DYNC1H1):c.8967G>A (p.Lys2989=)
NM_001376.5(DYNC1H1):c.8994T>C (p.Asn2998=)
NM_001376.5(DYNC1H1):c.9036G>A (p.Leu3012=)
NM_001376.5(DYNC1H1):c.9039C>A (p.Ala3013=)
NM_001376.5(DYNC1H1):c.9042T>C (p.Asn3014=) rs2152589085
NM_001376.5(DYNC1H1):c.9048+13C>A
NM_001376.5(DYNC1H1):c.9048+13C>T
NM_001376.5(DYNC1H1):c.9048+14G>T rs200027905
NM_001376.5(DYNC1H1):c.9048+18T>G
NM_001376.5(DYNC1H1):c.9049-12G>A
NM_001376.5(DYNC1H1):c.9049-13T>C rs368468406
NM_001376.5(DYNC1H1):c.9049-16C>T
NM_001376.5(DYNC1H1):c.9049-18C>T
NM_001376.5(DYNC1H1):c.9081C>T (p.Ala3027=)
NM_001376.5(DYNC1H1):c.9087G>A (p.Leu3029=)
NM_001376.5(DYNC1H1):c.9108G>A (p.Gly3036=) rs1555410937
NM_001376.5(DYNC1H1):c.9109G>T (p.Ala3037Ser) rs769817685
NM_001376.5(DYNC1H1):c.9117G>A (p.Lys3039=)
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=) rs34338935
NM_001376.5(DYNC1H1):c.9141C>T (p.His3047=)
NM_001376.5(DYNC1H1):c.9153C>T (p.Tyr3051=)
NM_001376.5(DYNC1H1):c.9165T>C (p.Thr3055=)
NM_001376.5(DYNC1H1):c.9174T>C (p.Val3058=)
NM_001376.5(DYNC1H1):c.9177C>T (p.Ile3059=)
NM_001376.5(DYNC1H1):c.9180C>T (p.Arg3060=) rs1555410949
NM_001376.5(DYNC1H1):c.9186C>A (p.Leu3062=)
NM_001376.5(DYNC1H1):c.9190G>A (p.Val3064Ile) rs765818743
NM_001376.5(DYNC1H1):c.9213C>T (p.Ser3071=) rs2152589199
NM_001376.5(DYNC1H1):c.9219G>A (p.Glu3073=) rs2048466890
NM_001376.5(DYNC1H1):c.9243A>G (p.Thr3081=)
NM_001376.5(DYNC1H1):c.9263+12T>C
NM_001376.5(DYNC1H1):c.9263+7G>A
NM_001376.5(DYNC1H1):c.9263+7G>C rs2048467310
NM_001376.5(DYNC1H1):c.9264-13G>A
NM_001376.5(DYNC1H1):c.9264-15G>A
NM_001376.5(DYNC1H1):c.9264-15G>C rs2048468776
NM_001376.5(DYNC1H1):c.9264-17A>G
NM_001376.5(DYNC1H1):c.9264-18C>T
NM_001376.5(DYNC1H1):c.9276T>C (p.Asn3092=)
NM_001376.5(DYNC1H1):c.9282T>C (p.Phe3094=) rs2152589292
NM_001376.5(DYNC1H1):c.9297C>T (p.Thr3099=) rs2048469194
NM_001376.5(DYNC1H1):c.9304C>T (p.Leu3102=) rs1060504513
NM_001376.5(DYNC1H1):c.9306G>A (p.Leu3102=)
NM_001376.5(DYNC1H1):c.9332G>C (p.Ser3111Thr)
NM_001376.5(DYNC1H1):c.9363C>G (p.Ile3121Met)
NM_001376.5(DYNC1H1):c.9369T>A (p.Pro3123=)
NM_001376.5(DYNC1H1):c.9390T>C (p.Tyr3130=) rs1232985980
NM_001376.5(DYNC1H1):c.9402G>T (p.Pro3134=) rs145095254
NM_001376.5(DYNC1H1):c.9411A>G (p.Pro3137=)
NM_001376.5(DYNC1H1):c.9420G>C (p.Arg3140=)
NM_001376.5(DYNC1H1):c.9426C>G (p.Ala3142=)
NM_001376.5(DYNC1H1):c.9444G>T (p.Val3148=)
NM_001376.5(DYNC1H1):c.9459T>G (p.Thr3153=)
NM_001376.5(DYNC1H1):c.9468+14T>C
NM_001376.5(DYNC1H1):c.9468+18A>C
NM_001376.5(DYNC1H1):c.9468+20C>A
NM_001376.5(DYNC1H1):c.9468+9A>G rs750452823

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