List of variants in gene DYNC1H1 reported as likely pathogenic by Labcorp Genetics (formerly Invitae), Labcorp

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)

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001376.5(DYNC1H1):c.10267G>A (p.Ala3423Thr)	rs762851661	0.00001
NM_001376.5(DYNC1H1):c.2357G>A (p.Arg786His)	rs1181434652	0.00001
NM_001376.5(DYNC1H1):c.10160T>C (p.Leu3387Pro)	rs1567019064
NM_001376.5(DYNC1H1):c.10574G>A (p.Arg3525His)	rs2152592202
NM_001376.5(DYNC1H1):c.11423GCA[2] (p.Ser3810del)	rs2503844940
NM_001376.5(DYNC1H1):c.1407T>G (p.Phe469Leu)	rs1261638807
NM_001376.5(DYNC1H1):c.1777G>T (p.Val593Phe)	rs2047932647
NM_001376.5(DYNC1H1):c.1825A>G (p.Ile609Val)	rs2503693934
NM_001376.5(DYNC1H1):c.2356C>T (p.Arg786Cys)
NM_001376.5(DYNC1H1):c.3015+17_3015+18delinsCT	rs2503708532
NM_001376.5(DYNC1H1):c.3268A>G (p.Arg1090Gly)
NM_001376.5(DYNC1H1):c.3365C>T (p.Ser1122Phe)	rs1459382670
NM_001376.5(DYNC1H1):c.4699C>T (p.Arg1567Trp)	rs377013246
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His)	rs1057518287
NM_001376.5(DYNC1H1):c.6995G>T (p.Arg2332Leu)
NM_001376.5(DYNC1H1):c.925C>T (p.Arg309Cys)
NM_001376.5(DYNC1H1):c.9721A>G (p.Lys3241Glu)	rs2503812014

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