ClinVar Miner

List of variants reported as uncertain significance for cerebral cavernous malformation 3

Included ClinVar conditions (1):
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_007217.4(PDCD10):c.*199A>C rs183589284 0.00074
NM_007217.4(PDCD10):c.*339G>A rs528574350 0.00029
NM_007217.4(PDCD10):c.-393G>A rs779552942 0.00012
NM_007217.4(PDCD10):c.268+6G>A rs777634962 0.00008
NM_007217.4(PDCD10):c.-432C>T rs886058164 0.00007
NM_007217.4(PDCD10):c.*174C>T rs886058159 0.00006
NM_007217.4(PDCD10):c.*139A>G rs758404072 0.00005
NM_007217.4(PDCD10):c.*141C>T rs886058160 0.00002
NM_007217.4(PDCD10):c.*221T>C rs886058158
NM_007217.4(PDCD10):c.*63T>C rs886058162
NM_007217.4(PDCD10):c.*87A>T rs886058161
NM_007217.4(PDCD10):c.131T>G (p.Leu44Arg)
NM_007217.4(PDCD10):c.143TCA[1] (p.Ile49del)
NM_007217.4(PDCD10):c.151-11C>T rs886058163
NM_007217.4(PDCD10):c.214G>A (p.Val72Met)
NM_007217.4(PDCD10):c.268+5C>G
NM_007217.4(PDCD10):c.271T>C (p.Tyr91His)
NM_007217.4(PDCD10):c.311A>G (p.Asn104Ser)
NM_007217.4(PDCD10):c.377G>T (p.Arg126Met)
NM_007217.4(PDCD10):c.404C>A (p.Ala135Asp)
NM_007217.4(PDCD10):c.474+4C>A rs1390197622
NM_007217.4(PDCD10):c.474+4_474+5insACAA
NM_007217.4(PDCD10):c.542A>G (p.Tyr181Cys)
NM_007217.4(PDCD10):c.557A>G (p.Lys186Arg) rs1719722974
NM_007217.4(PDCD10):c.58A>G (p.Met20Val)
NM_007217.4(PDCD10):c.71C>T (p.Ala24Val)
NM_007217.4(PDCD10):c.71_85del (p.Ala24_Pro28del)

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