ClinVar Miner

List of variants in gene RARS2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_020320.5(RARS2):c.1410C>A (p.Leu470=) rs139564081 0.00223
NM_020320.5(RARS2):c.456T>C (p.Asn152=) rs141374913 0.00070
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605 0.00055
NM_020320.5(RARS2):c.78A>C (p.Thr26=) rs138360045 0.00046
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_020320.5(RARS2):c.1253A>G (p.Lys418Arg) rs771658534 0.00008
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_020320.5(RARS2):c.1512-4T>C rs542159390 0.00005
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) rs765088174 0.00005
NM_020320.5(RARS2):c.323A>G (p.Asp108Gly) rs750490956 0.00005
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter) rs199835443 0.00004
NM_020320.5(RARS2):c.1236G>C (p.Lys412Asn) rs200547165 0.00003
NM_020320.5(RARS2):c.*110G>A
NM_020320.5(RARS2):c.110+5A>G rs63749985
NM_020320.5(RARS2):c.1586+873C>G
NM_020320.5(RARS2):c.1586+893T>A
NM_020320.5(RARS2):c.185A>T (p.Gln62Leu)
NM_020320.5(RARS2):c.1A>T (p.Met1Leu) rs774923951
NM_020320.5(RARS2):c.2T>G (p.Met1Arg) rs199862050
NM_020320.5(RARS2):c.307CAA[1] (p.Gln104del) rs1582645634
NM_020320.5(RARS2):c.6G>T (p.Ala2=) rs371542506
NM_020320.5(RARS2):c.888G>C (p.Thr296=) rs145189950
NM_020320.5(RARS2):c.963_964del (p.Tyr322fs) rs773838753

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