ClinVar Miner

List of variants in gene DYNC1H1 reported by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.1085C>T (p.Thr362Ile) rs1818621543
NM_001376.5(DYNC1H1):c.1208A>T (p.His403Leu)
NM_001376.5(DYNC1H1):c.1618A>G (p.Lys540Glu) rs2047930757
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001376.5(DYNC1H1):c.3665A>G (p.Asn1222Ser) rs2048071678
NM_001376.5(DYNC1H1):c.4053G>A (p.Trp1351Ter)
NM_001376.5(DYNC1H1):c.6703C>T (p.Arg2235Cys) rs2048263659
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.5(DYNC1H1):c.9547dup (p.Tyr3183fs) rs2152590132

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