ClinVar Miner

List of variants in gene DYNC1H1 reported as likely pathogenic for central nervous system disorder

Included ClinVar conditions (2490):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609 0.00002
NM_001376.5(DYNC1H1):c.1411C>T (p.Arg471Cys) rs2047892380 0.00001
NM_001376.5(DYNC1H1):c.10016G>A (p.Arg3339His) rs2152591288
NM_001376.5(DYNC1H1):c.10172C>T (p.Pro3391Leu) rs1555411378
NM_001376.5(DYNC1H1):c.10280A>C (p.Gln3427Pro) rs1555411394
NM_001376.5(DYNC1H1):c.10973G>A (p.Gly3658Glu) rs1595629181
NM_001376.5(DYNC1H1):c.11015C>T (p.Ser3672Leu) rs2152594747
NM_001376.5(DYNC1H1):c.11183G>C (p.Arg3728Pro) rs797045529
NM_001376.5(DYNC1H1):c.1195A>G (p.Arg399Gly) rs1595599240
NM_001376.5(DYNC1H1):c.12214G>T (p.Gly4072Cys) rs2152596521
NM_001376.5(DYNC1H1):c.12419G>A (p.Arg4140His) rs770451110
NM_001376.5(DYNC1H1):c.1427T>C (p.Leu476Pro)
NM_001376.5(DYNC1H1):c.161_172del (p.50AALE[1])
NM_001376.5(DYNC1H1):c.1738G>A (p.Glu580Lys) rs863223361
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.1793G>C (p.Arg598Pro)
NM_001376.5(DYNC1H1):c.1867T>C (p.Phe623Leu) rs2141274749
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001376.5(DYNC1H1):c.2327delinsGGGT (p.Pro776delinsArgVal)
NM_001376.5(DYNC1H1):c.2644C>A (p.Gln882Lys) rs2047950288
NM_001376.5(DYNC1H1):c.2868+2_2868+5delinsCCACAAA rs2141276717
NM_001376.5(DYNC1H1):c.3157-2A>T rs2141280750
NM_001376.5(DYNC1H1):c.3170A>G (p.Tyr1057Cys) rs2048038246
NM_001376.5(DYNC1H1):c.4042G>A (p.Glu1348Lys) rs1047509819
NM_001376.5(DYNC1H1):c.4053G>A (p.Trp1351Ter)
NM_001376.5(DYNC1H1):c.4067C>T (p.Pro1356Leu)
NM_001376.5(DYNC1H1):c.4234C>T (p.His1412Tyr) rs1595609005
NM_001376.5(DYNC1H1):c.4396-1G>C
NM_001376.5(DYNC1H1):c.4700G>T (p.Arg1567Leu) rs797044901
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln) rs1064796765
NM_001376.5(DYNC1H1):c.5873A>G (p.Asp1958Gly)
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) rs1057518287
NM_001376.5(DYNC1H1):c.5902C>T (p.Leu1968Phe)
NM_001376.5(DYNC1H1):c.596A>C (p.Asn199Thr)
NM_001376.5(DYNC1H1):c.6122T>C (p.Met2041Thr) rs1555409836
NM_001376.5(DYNC1H1):c.6148G>C (p.Ala2050Pro)
NM_001376.5(DYNC1H1):c.6870C>A (p.Ser2290Arg)
NM_001376.5(DYNC1H1):c.6872T>G (p.Val2291Gly)
NM_001376.5(DYNC1H1):c.6943T>G (p.Leu2315Val)
NM_001376.5(DYNC1H1):c.6995G>A (p.Arg2332His) rs1236304133
NM_001376.5(DYNC1H1):c.7145_7148dup (p.Ser2384fs) rs2152581547
NM_001376.5(DYNC1H1):c.7474C>T (p.Arg2492Ter) rs2048322542
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.5(DYNC1H1):c.791G>C (p.Arg264Pro) rs713993043
NM_001376.5(DYNC1H1):c.7994A>G (p.Glu2665Gly)
NM_001376.5(DYNC1H1):c.8390G>A (p.Arg2797His) rs2152584603
NM_001376.5(DYNC1H1):c.874C>T (p.Arg292Trp) rs2047850664
NM_001376.5(DYNC1H1):c.9547dup (p.Tyr3183fs) rs2152590132
NM_001376.5(DYNC1H1):c.9751G>A (p.Glu3251Lys) rs2152590264
NM_001376.5(DYNC1H1):c.9959C>T (p.Ala3320Val) rs1555411305

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