ClinVar Miner

List of variants studied for pontocerebellar hypoplasia type 6 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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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.606C>T (p.Leu202=) rs75794097 0.01095
NM_020320.5(RARS2):c.-8A>C rs28381459 0.00245
NM_020320.5(RARS2):c.1410C>A (p.Leu470=) rs139564081 0.00223
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.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.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.754T>A (p.Tyr252Asn) rs140692271 0.00018
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.245G>A (p.Ser82Asn) rs749061654 0.00004
NM_020320.5(RARS2):c.-13C>T rs200228607 0.00002
NM_020320.5(RARS2):c.1367G>A (p.Arg456His) rs144447777 0.00001
NM_020320.5(RARS2):c.26T>C (p.Ile9Thr) rs371367255 0.00001
NM_020320.5(RARS2):c.660A>C (p.Ala220=) rs553502877 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.1511+3A>G rs886061821
NM_020320.5(RARS2):c.726A>G (p.Gln242=) rs145499324
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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