ClinVar Miner

List of variants reported as benign for Pontocerebellar hypoplasia type 6

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_020320.5(RARS2):c.1512-43T>C rs9450723 0.61345
NM_020320.5(RARS2):c.452-21A>G rs4707374 0.61261
NM_020320.5(RARS2):c.451+140G>A rs34513746 0.32228
NM_020320.5(RARS2):c.111-21C>T rs9450740 0.24263
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.111-19T>G rs6900057 0.07559
NM_020320.5(RARS2):c.974+90T>C rs2273131 0.06641
NM_020320.5(RARS2):c.975-43G>A rs3757371 0.06627
NM_020320.5(RARS2):c.1305+18C>T rs3734908 0.06626
NM_020320.5(RARS2):c.1237+38G>A rs13203056 0.04243
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.155A>T (p.Lys52Ile) rs73496064 0.00172
NM_020320.5(RARS2):c.879-6T>C rs117516147 0.00036
NM_020320.5(RARS2):c.1236G>C (p.Lys412Asn) rs200547165 0.00003
NM_020320.5(RARS2):c.-13C>T rs200228607 0.00002
NM_020320.5(RARS2):c.1678C>T (p.Arg560Cys) rs562472225 0.00001
NM_020320.5(RARS2):c.726A>G (p.Gln242=) rs145499324

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