ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2O by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_001376.5(DYNC1H1):c.10197+3G>A rs2048529897
NM_001376.5(DYNC1H1):c.10693A>G (p.Ser3565Gly) rs2048546542
NM_001376.5(DYNC1H1):c.11263G>A (p.Glu3755Lys) rs2048611326
NM_001376.5(DYNC1H1):c.12191C>T (p.Thr4064Met) rs750249796
NM_001376.5(DYNC1H1):c.12368G>A (p.Arg4123Gln) rs2048664099
NM_001376.5(DYNC1H1):c.2538+8C>G rs755060365
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) rs1057518961
NM_001376.5(DYNC1H1):c.915A>G (p.Lys305=) rs1566996726

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