ClinVar Miner

List of variants studied for pontocerebellar hypoplasia type 6 by Natera, Inc.

Included ClinVar conditions (1):
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_020320.5(RARS2):c.1704A>G (p.Lys568=) rs8802 0.12189
NM_020320.5(RARS2):c.872A>G (p.Lys291Arg) rs17850652 0.09110
NM_020320.5(RARS2):c.703G>A (p.Val235Met) rs35862137 0.03019
NM_020320.5(RARS2):c.991A>G (p.Ile331Val) rs3757370 0.02330
NM_020320.5(RARS2):c.63A>G (p.Pro21=) rs7748563 0.01309
NM_020320.5(RARS2):c.-8A>C rs28381459 0.00245
NM_020320.5(RARS2):c.155A>T (p.Lys52Ile) rs73496064 0.00172
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.773G>A (p.Arg258His) rs145297855 0.00044
NM_020320.5(RARS2):c.879-6T>C rs117516147 0.00036
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.1512-6T>C rs185924037 0.00022
NM_020320.5(RARS2):c.6G>A (p.Ala2=) rs371542506 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.1492A>G (p.Ile498Val) rs200632524 0.00006
NM_020320.5(RARS2):c.15T>A (p.Phe5Leu) rs545377358 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.444C>T (p.Thr148=) rs201596004 0.00004
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.709G>A (p.Ala237Thr) rs771897965 0.00003
NM_020320.5(RARS2):c.1170C>T (p.Val390=) rs780796866 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.1678C>T (p.Arg560Cys) rs562472225 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.28G>A (p.Ala10Thr) rs755340864 0.00001
NM_020320.5(RARS2):c.660A>C (p.Ala220=) rs553502877 0.00001
NM_020320.5(RARS2):c.885A>G (p.Gly295=) rs769636930 0.00001
NM_020320.5(RARS2):c.1587-10C>G rs531179961
NM_020320.5(RARS2):c.1675G>A (p.Val559Ile) rs1770872960
NM_020320.5(RARS2):c.19C>T (p.Arg7Cys) rs201693843
NM_020320.5(RARS2):c.1A>G (p.Met1Val) rs774923951
NM_020320.5(RARS2):c.262G>A (p.Val88Ile) rs1562212642
NM_020320.5(RARS2):c.637G>A (p.Ala213Thr) rs1562102337
NM_020320.5(RARS2):c.726A>G (p.Gln242=) rs145499324
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>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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