ClinVar Miner

List of variants in gene HARS1 reported as uncertain significance for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (92):
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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414 0.00010
NM_002109.6(HARS1):c.1067G>A (p.Ser356Asn) rs144322728 0.00004
NM_002109.6(HARS1):c.256C>T (p.Arg86Cys) rs775758650 0.00001
NM_002109.6(HARS1):c.335A>G (p.Lys112Arg) rs746177150 0.00001
NM_002109.6(HARS1):c.464T>G (p.Val155Gly) rs1239341211
NM_002109.6(HARS1):c.989A>G (p.Tyr330Cys) rs1554106881

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