ClinVar Miner

List of variants reported as likely pathogenic for Jeune thoracic dystrophy by Invitae

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Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.5960C>T (p.Thr1987Met) rs769618486 0.00011
NM_001377.3(DYNC2H1):c.9011G>A (p.Arg3004His) rs755871858 0.00004
NM_001377.3(DYNC2H1):c.7966C>T (p.Arg2656Cys) rs371214841 0.00003
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met) rs751030969 0.00002
NM_001377.3(DYNC2H1):c.1248+1G>A rs1389651809 0.00001
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val) rs1043384862 0.00001
NM_001377.3(DYNC2H1):c.6613C>T (p.Arg2205Cys) rs750689118 0.00001
NM_001377.3(DYNC2H1):c.8694+1G>T rs1455606327 0.00001
NM_001377.3(DYNC2H1):c.9820-2A>G rs864622111 0.00001
NC_000003.11:g.(?_159992649)_(160000363_?)del
NC_000011.10:g.(?_103303073)_(103316640_?)del
NM_001377.3(DYNC2H1):c.10099C>A (p.Arg3367Ser)
NM_001377.3(DYNC2H1):c.10099C>T (p.Arg3367Cys) rs200710887
NM_001377.3(DYNC2H1):c.10100G>T (p.Arg3367Leu) rs759549373
NM_001377.3(DYNC2H1):c.10141C>T (p.Pro3381Ser)
NM_001377.3(DYNC2H1):c.10207-1G>C
NM_001377.3(DYNC2H1):c.10462-2A>G
NM_001377.3(DYNC2H1):c.10605+1G>T
NM_001377.3(DYNC2H1):c.10761+1G>A
NM_001377.3(DYNC2H1):c.11256+1G>T
NM_001377.3(DYNC2H1):c.11493+2T>A rs1555096711
NM_001377.3(DYNC2H1):c.11494-1G>C
NM_001377.3(DYNC2H1):c.11650-1G>A rs878852996
NM_001377.3(DYNC2H1):c.11726-1G>A
NM_001377.3(DYNC2H1):c.11726-2A>G
NM_001377.3(DYNC2H1):c.11934+1G>A
NM_001377.3(DYNC2H1):c.12156+1G>T
NM_001377.3(DYNC2H1):c.12157-1G>T
NM_001377.3(DYNC2H1):c.12157-2A>G
NM_001377.3(DYNC2H1):c.12367-1G>A
NM_001377.3(DYNC2H1):c.12409C>T (p.Pro4137Ser)
NM_001377.3(DYNC2H1):c.12410C>T (p.Pro4137Leu)
NM_001377.3(DYNC2H1):c.12440G>A (p.Arg4147His)
NM_001377.3(DYNC2H1):c.12456+2T>C rs778359687
NM_001377.3(DYNC2H1):c.12457-1G>C rs2135805319
NM_001377.3(DYNC2H1):c.12566+2T>C
NM_001377.3(DYNC2H1):c.12567-1G>A
NM_001377.3(DYNC2H1):c.12649-1G>A rs1333438254
NM_001377.3(DYNC2H1):c.12649-1G>T
NM_001377.3(DYNC2H1):c.12695T>G (p.Leu4232Arg) rs1945272232
NM_001377.3(DYNC2H1):c.12765+1_12765+4del
NM_001377.3(DYNC2H1):c.1360+2T>G
NM_001377.3(DYNC2H1):c.1661+1G>C
NM_001377.3(DYNC2H1):c.1662-2A>G
NM_001377.3(DYNC2H1):c.1760G>A (p.Arg587His)
NM_001377.3(DYNC2H1):c.195+1G>A
NM_001377.3(DYNC2H1):c.2346-1G>A
NM_001377.3(DYNC2H1):c.2612T>C (p.Leu871Pro)
NM_001377.3(DYNC2H1):c.2703-2A>G
NM_001377.3(DYNC2H1):c.2946+1G>C
NM_001377.3(DYNC2H1):c.2947-2_2949del
NM_001377.3(DYNC2H1):c.3302+1G>T
NM_001377.3(DYNC2H1):c.3458+1G>A
NM_001377.3(DYNC2H1):c.3574-2A>G
NM_001377.3(DYNC2H1):c.367-2A>G rs1291197898
NM_001377.3(DYNC2H1):c.3744+1G>A
NM_001377.3(DYNC2H1):c.3745-1G>A
NM_001377.3(DYNC2H1):c.4268G>A (p.Arg1423His)
NM_001377.3(DYNC2H1):c.4325G>A (p.Gly1442Asp)
NM_001377.3(DYNC2H1):c.4379-1G>C rs1555052497
NM_001377.3(DYNC2H1):c.4491+1G>A
NM_001377.3(DYNC2H1):c.4491+2T>C
NM_001377.3(DYNC2H1):c.4492-1G>A
NM_001377.3(DYNC2H1):c.4553G>A (p.Cys1518Tyr) rs1555053115
NM_001377.3(DYNC2H1):c.4969-2A>G
NM_001377.3(DYNC2H1):c.5335-1G>A
NM_001377.3(DYNC2H1):c.5558+1G>A
NM_001377.3(DYNC2H1):c.5558+2T>C rs762666243
NM_001377.3(DYNC2H1):c.5559-2A>G
NM_001377.3(DYNC2H1):c.5771A>T (p.Asp1924Val) rs1565368733
NM_001377.3(DYNC2H1):c.5875-2A>T
NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu) rs137853025
NM_001377.3(DYNC2H1):c.6116G>A (p.Arg2039His) rs1555057503
NM_001377.3(DYNC2H1):c.6139+2T>C
NM_001377.3(DYNC2H1):c.6347+1G>A rs1565371538
NM_001377.3(DYNC2H1):c.6477+1G>A rs756313208
NM_001377.3(DYNC2H1):c.6633+1G>A
NM_001377.3(DYNC2H1):c.6634-1G>C
NM_001377.3(DYNC2H1):c.6893+1G>A
NM_001377.3(DYNC2H1):c.6894-1G>A
NM_001377.3(DYNC2H1):c.7438-2A>G rs1555063811
NM_001377.3(DYNC2H1):c.7541-2A>G
NM_001377.3(DYNC2H1):c.8729T>C (p.Leu2910Pro) rs1555071484
NM_001377.3(DYNC2H1):c.8947-2A>G
NM_001377.3(DYNC2H1):c.9010C>T (p.Arg3004Cys)
NM_001377.3(DYNC2H1):c.940T>C (p.Trp314Arg)
NM_001377.3(DYNC2H1):c.9845A>C (p.Asp3282Ala)
NM_001377.3(DYNC2H1):c.989G>A (p.Arg330His)
NM_001377.3(DYNC2H1):c.989G>T (p.Arg330Leu)
NM_001377.3(DYNC2H1):c.9918+1G>T rs772732648
NM_001377.3(DYNC2H1):c.9919-2A>C
NM_001377.3(DYNC2H1):c.9919-2A>T
NM_001377.3(DYNC2H1):c.999+1G>A
NM_020800.3(IFT80):c.1076+1G>A
NM_020800.3(IFT80):c.1152-1G>C rs777519235
NM_020800.3(IFT80):c.1380+2del rs2108240653
NM_020800.3(IFT80):c.1516+2T>C
NM_020800.3(IFT80):c.1664+1G>A
NM_020800.3(IFT80):c.440-2A>G rs1721846338
NM_020800.3(IFT80):c.957+1G>A
NM_020800.3(IFT80):c.958-1G>T rs202051267

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