ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive Parkinson disease 14

Included ClinVar conditions (2):
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met) rs149653983 0.00029
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) rs147455037 0.00010
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr) rs141045127 0.00006
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu) rs587784326 0.00004
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) rs121908683 0.00002
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) rs587784349 0.00002
NM_003560.4(PLA2G6):c.2341G>A (p.Ala781Thr) rs139093920 0.00002
NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro) rs1403125636 0.00001
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) rs368497893 0.00001
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090 0.00001
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln) rs587784332 0.00001
NM_003560.4(PLA2G6):c.1912G>A (p.Gly638Arg) rs1000303487 0.00001
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp) rs587784350 0.00001
NM_003560.4(PLA2G6):c.1019_1025del (p.Gly340fs) rs797044903
NM_003560.4(PLA2G6):c.1078-1G>A
NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg) rs587784327
NM_003560.4(PLA2G6):c.1186+1G>T
NM_003560.4(PLA2G6):c.1592-2A>C rs1465629909
NM_003560.4(PLA2G6):c.1612C>A (p.Arg538Ser) rs370691849
NM_003560.4(PLA2G6):c.1640A>G (p.Glu547Gly) rs1060499764
NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln) rs776713955
NM_003560.4(PLA2G6):c.1772G>T (p.Arg591Leu)
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu) rs1451486649
NM_003560.4(PLA2G6):c.1893G>A (p.Trp631Ter) rs2145683127
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_003560.4(PLA2G6):c.2058del (p.Lys686fs)
NM_003560.4(PLA2G6):c.210-1G>A
NM_003560.4(PLA2G6):c.2266C>T (p.Gln756Ter)
NM_003560.4(PLA2G6):c.2287del (p.Gln763fs)
NM_003560.4(PLA2G6):c.319del (p.Leu107fs) rs776376695
NM_003560.4(PLA2G6):c.610-1G>T rs1223788672
NM_003560.4(PLA2G6):c.794dup (p.Cys267fs)
NM_003560.4(PLA2G6):c.857del (p.Tyr286fs)
NM_003560.4(PLA2G6):c.985C>T (p.Arg329Cys)

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