ClinVar Miner

List of variants in gene RARS2 reported as uncertain significance for Pontocerebellar hypoplasia type 6

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_020320.5(RARS2):c.456T>C (p.Asn152=) rs141374913 0.00070
NM_020320.5(RARS2):c.1518C>T (p.Asp506=) rs754538094 0.00059
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.975-14C>T rs199941996 0.00045
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu) rs142348911 0.00026
NM_020320.5(RARS2):c.207A>G (p.Ala69=) rs568483789 0.00025
NM_020320.5(RARS2):c.1108G>C (p.Glu370Gln) rs138490776 0.00023
NM_020320.5(RARS2):c.754T>A (p.Tyr252Asn) rs140692271 0.00018
NM_020320.5(RARS2):c.1413C>G (p.His471Gln) rs187815721 0.00016
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys) rs147844153 0.00011
NM_020320.5(RARS2):c.1306-8C>T rs375589432 0.00010
NM_020320.5(RARS2):c.1492A>G (p.Ile498Val) rs200632524 0.00006
NM_020320.5(RARS2):c.1512-4T>C rs542159390 0.00005
NM_020320.5(RARS2):c.735G>A (p.Arg245=) rs574006058 0.00005
NM_020320.5(RARS2):c.245G>A (p.Ser82Asn) rs749061654 0.00004
NM_020320.5(RARS2):c.5C>T (p.Ala2Val) rs760114539 0.00004
NM_020320.5(RARS2):c.1679G>A (p.Arg560His) rs756502974 0.00003
NM_020320.5(RARS2):c.709G>A (p.Ala237Thr) rs771897965 0.00003
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys) rs767150990 0.00002
NM_020320.5(RARS2):c.1442A>G (p.Tyr481Cys) rs775657290 0.00002
NM_020320.5(RARS2):c.152A>G (p.Glu51Gly) rs863224185 0.00002
NM_020320.5(RARS2):c.970A>G (p.Thr324Ala) rs774506039 0.00002
NM_020320.5(RARS2):c.1086G>T (p.Lys362Asn) rs200101535 0.00001
NM_020320.5(RARS2):c.110A>G (p.Glu37Gly) rs768728673 0.00001
NM_020320.5(RARS2):c.1367G>A (p.Arg456His) rs144447777 0.00001
NM_020320.5(RARS2):c.1369G>A (p.Gly457Arg) rs758894784 0.00001
NM_020320.5(RARS2):c.1692C>G (p.Ala564=) rs760078372 0.00001
NM_020320.5(RARS2):c.1708C>T (p.Leu570Phe) rs144242932 0.00001
NM_020320.5(RARS2):c.1724dup (p.Cys576fs) rs863224184 0.00001
NM_020320.5(RARS2):c.26T>C (p.Ile9Thr) rs371367255 0.00001
NM_020320.5(RARS2):c.28G>A (p.Ala10Thr) rs755340864 0.00001
NM_020320.5(RARS2):c.517G>A (p.Asp173Asn) rs769045045 0.00001
NM_020320.5(RARS2):c.783A>G (p.Val261=) rs770878816 0.00001
NM_020320.5(RARS2):c.879-13T>C rs765999304 0.00001
NM_020320.5(RARS2):c.1036-9C>T rs886061822
NM_020320.5(RARS2):c.1152G>T (p.Lys384Asn)
NM_020320.5(RARS2):c.1168G>A (p.Val390Ile) rs1773191232
NM_020320.5(RARS2):c.122A>G (p.Asp41Gly)
NM_020320.5(RARS2):c.124T>A (p.Phe42Ile)
NM_020320.5(RARS2):c.1297ATT[1] (p.Ile434del) rs1772724414
NM_020320.5(RARS2):c.1363A>G (p.Ser455Gly)
NM_020320.5(RARS2):c.1511+3A>G rs886061821
NM_020320.5(RARS2):c.1535C>T (p.Ser512Leu)
NM_020320.5(RARS2):c.1675G>A (p.Val559Ile) rs1770872960
NM_020320.5(RARS2):c.189del (p.Gln64fs) rs1085307089
NM_020320.5(RARS2):c.19C>A (p.Arg7Ser)
NM_020320.5(RARS2):c.19C>T (p.Arg7Cys) rs201693843
NM_020320.5(RARS2):c.214C>G (p.Leu72Val) rs1562212838
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)
NM_020320.5(RARS2):c.262G>A (p.Val88Ile) rs1562212642
NM_020320.5(RARS2):c.29C>T (p.Ala10Val) rs1776518694
NM_020320.5(RARS2):c.340T>C (p.Leu114=) rs1785581058
NM_020320.5(RARS2):c.488A>G (p.His163Arg) rs1260340118
NM_020320.5(RARS2):c.536-5G>A rs1781141008
NM_020320.5(RARS2):c.602A>G (p.His201Arg)
NM_020320.5(RARS2):c.637G>A (p.Ala213Thr) rs1562102337
NM_020320.5(RARS2):c.757A>G (p.Ile253Val) rs863224179
NM_020320.5(RARS2):c.772-3del rs368859792
NM_020320.5(RARS2):c.772-4_772-3del rs368859792
NM_020320.5(RARS2):c.818G>C (p.Arg273Pro) rs139721632
NM_020320.5(RARS2):c.818G>T (p.Arg273Leu) rs139721632
NM_020320.5(RARS2):c.888G>A (p.Thr296=) rs145189950
NM_020320.5(RARS2):c.888G>C (p.Thr296=) rs145189950

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