ClinVar Miner

List of variants in gene RARS2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu) rs142348911 0.00026
NM_020320.5(RARS2):c.1512-6T>C rs185924037 0.00022
NM_020320.5(RARS2):c.13T>C (p.Phe5Leu) rs769498821 0.00014
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro) rs775295739 0.00006
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_020320.5(RARS2):c.36+4T>C rs764668779 0.00004
NM_020320.5(RARS2):c.709G>A (p.Ala237Thr) rs771897965 0.00003
NM_020320.5(RARS2):c.1708C>T (p.Leu570Phe) rs144242932 0.00001
NM_020320.5(RARS2):c.28G>A (p.Ala10Thr) rs755340864 0.00001
NM_020320.5(RARS2):c.1072T>C (p.Phe358Leu)
NM_020320.5(RARS2):c.1126C>T (p.Pro376Ser)
NM_020320.5(RARS2):c.1133G>T (p.Gly378Val)
NM_020320.5(RARS2):c.1176C>A (p.Phe392Leu)
NM_020320.5(RARS2):c.1255A>G (p.Asn419Asp)
NM_020320.5(RARS2):c.1352G>A (p.Arg451His)
NM_020320.5(RARS2):c.1439G>A (p.Gly480Glu) rs760844669
NM_020320.5(RARS2):c.1511+4T>G
NM_020320.5(RARS2):c.1733T>C (p.Met578Thr)
NM_020320.5(RARS2):c.413A>G (p.Lys138Arg)
NM_020320.5(RARS2):c.47T>C (p.Val16Ala)
NM_020320.5(RARS2):c.62C>T (p.Pro21Leu)
NM_020320.5(RARS2):c.638C>G (p.Ala213Gly)
NM_020320.5(RARS2):c.697G>A (p.Gly233Ser)
NM_020320.5(RARS2):c.734G>A (p.Arg245Gln)
NM_020320.5(RARS2):c.763G>T (p.Val255Phe)
NM_020320.5(RARS2):c.790G>A (p.Asp264Asn)
NM_020320.5(RARS2):c.85T>A (p.Ser29Thr)

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