List of variants in gene DYNC1H1 reported as likely pathogenic for anterior horn disorder

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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: 18

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HGVS	dbSNP	gnomAD frequency
NM_001376.5(DYNC1H1):c.1195A>G (p.Arg399Gly)	rs1595599240
NM_001376.5(DYNC1H1):c.1427T>C (p.Leu476Pro)
NM_001376.5(DYNC1H1):c.161_172del (p.50AALE[1])
NM_001376.5(DYNC1H1):c.1738G>A (p.Glu580Lys)	rs863223361
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)	rs587780564
NM_001376.5(DYNC1H1):c.1793G>C (p.Arg598Pro)
NM_001376.5(DYNC1H1):c.1867T>C (p.Phe623Leu)	rs2141274749
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)	rs1057518083
NM_001376.5(DYNC1H1):c.3157-2A>T	rs2141280750
NM_001376.5(DYNC1H1):c.3170A>G (p.Tyr1057Cys)	rs2048038246
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His)	rs1057518287
NM_001376.5(DYNC1H1):c.596A>C (p.Asn199Thr)
NM_001376.5(DYNC1H1):c.6148G>C (p.Ala2050Pro)
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)	rs879253979
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)	rs794727634
NM_001376.5(DYNC1H1):c.791G>C (p.Arg264Pro)	rs713993043
NM_001376.5(DYNC1H1):c.8390G>A (p.Arg2797His)	rs2152584603
NM_001376.5(DYNC1H1):c.9547dup (p.Tyr3183fs)	rs2152590132

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