List of variants in gene DNAH5 reported as likely pathogenic by Fulgent Genetics, Fulgent Genetics

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001369.3(DNAH5):c.46C>T (p.Arg16Ter)	rs772230378	0.00003
NM_001369.3(DNAH5):c.5290T>C (p.Ser1764Pro)	rs748763552	0.00002
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter)	rs758112779	0.00001
NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter)	rs776686983	0.00001
NM_001369.3(DNAH5):c.3598+1G>A	rs2151920209
NM_001369.3(DNAH5):c.3675C>G (p.Tyr1225Ter)	rs769582678
NM_001369.3(DNAH5):c.4400dup (p.Leu1467fs)	rs1252973555
NM_001369.3(DNAH5):c.6739C>T (p.Gln2247Ter)	rs2151814430
NM_001369.3(DNAH5):c.8360_8361insT (p.Lys2787fs)	rs1757084798
NM_001369.3(DNAH5):c.8528T>C (p.Phe2843Ser)	rs77377082
NM_001369.3(DNAH5):c.9975C>A (p.Cys3325Ter)	rs771715883

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