ClinVar Miner

List of variants in gene DYNC1H1 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.10016G>A (p.Arg3339His) rs2152591288
NM_001376.5(DYNC1H1):c.1013A>G (p.Asp338Gly) rs879254267
NM_001376.5(DYNC1H1):c.1013A>T (p.Asp338Val) rs879254267
NM_001376.5(DYNC1H1):c.10213A>C (p.Met3405Leu) rs2048531389
NM_001376.5(DYNC1H1):c.10263_10274del (p.Asp3422_Asp3425del)
NM_001376.5(DYNC1H1):c.11897C>G (p.Pro3966Arg) rs879254021
NM_001376.5(DYNC1H1):c.12214G>A (p.Gly4072Ser)
NM_001376.5(DYNC1H1):c.1351C>T (p.Arg451Cys) rs2047891781
NM_001376.5(DYNC1H1):c.1702C>A (p.Leu568Ile) rs1057523839
NM_001376.5(DYNC1H1):c.1741A>T (p.Met581Leu) rs1566999047
NM_001376.5(DYNC1H1):c.1793G>A (p.Arg598His) rs879254085
NM_001376.5(DYNC1H1):c.1795G>C (p.Gly599Arg) rs2047932793
NM_001376.5(DYNC1H1):c.1827C>G (p.Ile609Met) rs760971556
NM_001376.5(DYNC1H1):c.1869C>G (p.Phe623Leu) rs1057518250
NM_001376.5(DYNC1H1):c.1998A>T (p.Glu666Asp) rs1595600991
NM_001376.5(DYNC1H1):c.2252G>A (p.Arg751Gln) rs2141275001
NM_001376.5(DYNC1H1):c.2275C>T (p.Arg759Cys) rs1303476982
NM_001376.5(DYNC1H1):c.256+5G>C rs879254284
NM_001376.5(DYNC1H1):c.2821G>C (p.Asp941His) rs2141276690
NM_001376.5(DYNC1H1):c.3188T>C (p.Met1063Thr) rs2048038458
NM_001376.5(DYNC1H1):c.3280G>T (p.Asp1094Tyr) rs2048039273
NM_001376.5(DYNC1H1):c.3603G>T (p.Arg1201Ser) rs727505393
NM_001376.5(DYNC1H1):c.3980A>C (p.Gln1327Pro) rs763711252
NM_001376.5(DYNC1H1):c.4235A>G (p.His1412Arg) rs1064795677
NM_001376.5(DYNC1H1):c.4501A>T (p.Ile1501Phe) rs368821864
NM_001376.5(DYNC1H1):c.4741A>G (p.Lys1581Glu) rs879254112
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln) rs1064796765
NM_001376.5(DYNC1H1):c.5705G>T (p.Gly1902Val) rs1370693832
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) rs1057518287
NM_001376.5(DYNC1H1):c.6136C>T (p.Arg2046Trp) rs1400178483
NM_001376.5(DYNC1H1):c.6260A>G (p.Asp2087Gly) rs1555409850
NM_001376.5(DYNC1H1):c.6271C>T (p.Arg2091Trp) rs866242352
NM_001376.5(DYNC1H1):c.6490G>A (p.Val2164Met) rs1567010427
NM_001376.5(DYNC1H1):c.6880G>A (p.Glu2294Lys) rs2152579365
NM_001376.5(DYNC1H1):c.6995G>A (p.Arg2332His) rs1236304133
NM_001376.5(DYNC1H1):c.7064C>T (p.Thr2355Ile) rs1555410129
NM_001376.5(DYNC1H1):c.7072C>T (p.Arg2358Cys) rs879254019
NM_001376.5(DYNC1H1):c.751C>A (p.Arg251Ser) rs879253979
NM_001376.5(DYNC1H1):c.751C>G (p.Arg251Gly) rs879253979
NM_001376.5(DYNC1H1):c.7793G>T (p.Gly2598Val) rs879253971
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys) rs797045535
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_001376.5(DYNC1H1):c.791G>C (p.Arg264Pro) rs713993043
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001376.5(DYNC1H1):c.926G>A (p.Arg309His) rs797045177
NM_001376.5(DYNC1H1):c.9684G>C (p.Glu3228Asp) rs1555411143
NM_001376.5(DYNC1H1):c.9754AAG[2] (p.Lys3254del) rs797044918

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