ClinVar Miner

List of variants in gene DYNC2H1 reported as uncertain significance by Rare Disease Group, Clinical Genetics,Karolinska Institutet

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Total variants: 10
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HGVS dbSNP
NM_001080463.1(DYNC2H1):c.10022C>G (p.Pro3341Arg)
NM_001080463.1(DYNC2H1):c.5771A>T (p.Asp1924Val)
NM_001080463.1(DYNC2H1):c.624_625delGTinsAA (p.Phe209Ile) rs431905498
NM_001080463.1(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001080463.1(DYNC2H1):c.7129T>G (p.Phe2377Val)
NM_001080463.1(DYNC2H1):c.7919T>C (p.Ile2640Thr)
NM_001080463.1(DYNC2H1):c.8003T>G (p.Val2668Gly) rs764468030
NM_001080463.1(DYNC2H1):c.8444G>A (p.Ser2815Asn)
NM_001080463.1(DYNC2H1):c.[11284A>G;5971A>T]
NM_001080463.1(DYNC2H1):c.[12602C>T;9865G>A]

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