ClinVar Miner

List of variants in gene DYNC2H1 reported as pathogenic for Short-rib polydactyly syndrome type III

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Total variants: 65
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HGVS dbSNP
NM_001377.3(DYNC2H1):c.10042+2T>G rs1261505725
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) rs368631447
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657
NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter) rs562139820
NM_001377.3(DYNC2H1):c.10603C>T (p.Gln3535Ter) rs1555082470
NM_001377.3(DYNC2H1):c.1078C>T (p.Arg360Ter) rs764769351
NM_001377.3(DYNC2H1):c.11713_11716del (p.Arg3905fs) rs1453448143
NM_001377.3(DYNC2H1):c.11829C>G (p.Tyr3943Ter) rs369658526
NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys) rs755441612
NM_001377.3(DYNC2H1):c.12466_12469del (p.Asp4156fs) rs766816050
NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly) rs368654019
NM_001377.3(DYNC2H1):c.1360+2del rs780539887
NM_001377.3(DYNC2H1):c.1657_1660del (p.Leu553fs) rs748906528
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys) rs137853030
NM_001377.3(DYNC2H1):c.1847_1852del (p.Ile616_Leu617del) rs773897318
NM_001377.3(DYNC2H1):c.193A>C (p.Thr65Pro) rs555339053
NM_001377.3(DYNC2H1):c.1949T>A (p.Ile650Asn) rs1555041449
NM_001377.3(DYNC2H1):c.195G>T (p.Thr65=) rs896105030
NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp) rs1555043520
NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter) rs373335226
NM_001377.3(DYNC2H1):c.327C>G (p.Tyr109Ter) rs755305630
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys) rs745870321
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val) rs1043384862
NM_001377.3(DYNC2H1):c.4699C>G (p.Leu1567Val) rs901629870
NM_001377.3(DYNC2H1):c.4820T>A (p.Ile1607Asn) rs1555054771
NM_001377.3(DYNC2H1):c.4964A>G (p.Tyr1655Cys) rs1461272672
NM_001377.3(DYNC2H1):c.5129T>A (p.Val1710Asp) rs777396565
NM_001377.3(DYNC2H1):c.5876T>A (p.Ile1959Asn) rs756556129
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) rs552436294
NM_001377.3(DYNC2H1):c.6116G>A (p.Arg2039His) rs1555057503
NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile) rs771511132
NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp) rs1555057881
NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys) rs775426647
NM_001377.3(DYNC2H1):c.6545G>A (p.Cys2182Tyr) rs780855765
NM_001377.3(DYNC2H1):c.6562T>C (p.Phe2188Leu) rs1555060411
NM_001377.3(DYNC2H1):c.6574C>T (p.Leu2192Phe) rs1243999036
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001377.3(DYNC2H1):c.6634-2A>G rs1555060940
NM_001377.3(DYNC2H1):c.6866T>C (p.Leu2289Pro) rs1555061205
NM_001377.3(DYNC2H1):c.6883T>C (p.Cys2295Arg) rs1555061228
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377.3(DYNC2H1):c.7112C>T (p.Thr2371Ile) rs1322884865
NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly) rs1555062849
NM_001377.3(DYNC2H1):c.7438-2A>G rs1555063811
NM_001377.3(DYNC2H1):c.7525T>C (p.Tyr2509His) rs1386343205
NM_001377.3(DYNC2H1):c.7577T>G (p.Ile2526Ser) rs762588952
NM_001377.3(DYNC2H1):c.7643T>C (p.Phe2548Ser) rs1555064376
NM_001377.3(DYNC2H1):c.767-2A>G rs762873763
NM_001377.3(DYNC2H1):c.7774_7782del (p.Leu2592_Pro2594del) rs1555066796
NM_001377.3(DYNC2H1):c.7966C>T (p.Arg2656Cys) rs371214841
NM_001377.3(DYNC2H1):c.7984C>T (p.Arg2662Trp) rs964711006
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln) rs397514635
NM_001377.3(DYNC2H1):c.8050G>T (p.Gly2684Ter) rs747857715
NM_001377.3(DYNC2H1):c.8070C>G (p.Phe2690Leu) rs1214801816
NM_001377.3(DYNC2H1):c.8145C>A (p.Tyr2715Ter) rs371940321
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter) rs137853032
NM_001377.3(DYNC2H1):c.8729T>C (p.Leu2910Pro) rs1555071484
NM_001377.3(DYNC2H1):c.8765_8766GT[2] (p.Leu2924fs) rs1555071503
NM_001377.3(DYNC2H1):c.9353+1G>A rs776407305
NM_001377.3(DYNC2H1):c.9565C>T (p.Gln3189Ter) rs373924400
NM_001377.3(DYNC2H1):c.9710-2A>G rs1555077194
NM_001377.3(DYNC2H1):c.9844G>A (p.Asp3282Asn) rs780600124
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) rs397514637

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