ClinVar Miner

List of variants in gene NARS1 reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00088
NM_004539.4(NARS1):c.50C>T (p.Thr17Met) rs148893823 0.00003
NM_004539.4(NARS1):c.1564C>T (p.Arg522Ter) rs747737475 0.00002
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys) rs770931044 0.00001
NM_004539.4(NARS1):c.179A>C (p.Lys60Thr) rs1908005677
NM_004539.4(NARS1):c.616G>A (p.Glu206Lys)
NM_004539.4(NARS1):c.676G>C (p.Val226Leu) rs778244918
NM_004539.4(NARS1):c.713G>A (p.Arg238Gln) rs2122431077
NM_004539.4(NARS1):c.965G>T (p.Arg322Leu) rs2122429938
NM_004539.4(NARS1):c.986G>A (p.Arg329Gln) rs976688001

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