List of variants in gene DYNC2H1 reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro)	rs200460601	0.00035
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)	rs771487311	0.00007
NM_001377.3(DYNC2H1):c.8012T>C (p.Met2671Thr)	rs1196317554	0.00006
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp)	rs1350329646	0.00004
NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val)	rs369614706	0.00003
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg)	rs761765709	0.00003
NM_001377.3(DYNC2H1):c.11312C>T (p.Ala3771Val)	rs760635983	0.00002
NM_001377.3(DYNC2H1):c.11186C>T (p.Pro3729Leu)	rs775971666	0.00001
NM_001377.3(DYNC2H1):c.12462G>C (p.Trp4154Cys)	rs1047872625	0.00001
NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter)	rs373335226	0.00001
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val)	rs1043384862	0.00001
NM_001377.3(DYNC2H1):c.739C>T (p.Arg247Ter)	rs561778796	0.00001
NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly)	rs1555062849	0.00001
NM_001377.3(DYNC2H1):c.7984C>T (p.Arg2662Trp)	rs964711006	0.00001
NM_001377.3(DYNC2H1):c.9820-2A>G	rs864622111	0.00001
NM_001377.3(DYNC2H1):c.10606-14A>G	rs989023092
NM_001377.3(DYNC2H1):c.11161G>T (p.Glu3721Ter)	rs1555095233
NM_001377.3(DYNC2H1):c.11493+2T>A	rs1555096711
NM_001377.3(DYNC2H1):c.2574+1G>A	rs1565329461
NM_001377.3(DYNC2H1):c.3262dup (p.Ile1088fs)	rs767206815
NM_001377.3(DYNC2H1):c.4260+1G>A	rs1555051794
NM_001377.3(DYNC2H1):c.4909G>T (p.Asp1637Tyr)
NM_001377.3(DYNC2H1):c.5114T>C (p.Leu1705Pro)	rs878854166
NM_001377.3(DYNC2H1):c.5959A>G (p.Thr1987Ala)	rs137853035
NM_001377.3(DYNC2H1):c.6188_6191del (p.Ile2063fs)	rs1064796228
NM_001377.3(DYNC2H1):c.6478-1G>A
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr)	rs747348765
NM_001377.3(DYNC2H1):c.7964G>C (p.Gly2655Ala)
NM_001377.3(DYNC2H1):c.8885AAG[1] (p.Glu2963del)	rs770387587
NM_001377.3(DYNC2H1):c.9275G>A (p.Trp3092Ter)	rs1565408472
NM_001377.3(DYNC2H1):c.9568-2A>G	rs1555076918

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