ClinVar Miner

List of variants studied for cerebral cavernous malformation 3 by Invitae

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_007217.4(PDCD10):c.474+9A>G rs367568906 0.00074
NM_007217.4(PDCD10):c.574G>A (p.Val192Ile) rs151267430 0.00061
NM_007217.4(PDCD10):c.268+6G>A rs777634962 0.00008
NM_007217.4(PDCD10):c.213C>T (p.Ser71=) rs201316215 0.00001
NM_007217.4(PDCD10):c.45A>G (p.Thr15=) rs751478724 0.00001
NM_007217.4(PDCD10):c.474+5G>A rs1553759139 0.00001
NM_007217.4(PDCD10):c.96+17T>C rs1208666143 0.00001
NC_000003.11:g.(?_167402096)_(167405501_?)del
NC_000003.11:g.(?_167405002)_(167413530_?)del
NC_000003.11:g.(?_167413364)_(167413530_?)del
NC_000003.11:g.(?_167413364)_(167437945_?)del
NC_000003.11:g.(?_167422610)_(167422703_?)del
NC_000003.11:g.(?_167422610)_(167437965_?)del
NC_000003.11:g.(?_167437830)_(167437945_?)del
NC_000003.12:g.(?_167684288)_(167687713_?)del
NC_000003.12:g.(?_167684288)_(167697146_?)del
NC_000003.12:g.(?_167684288)_(167720177_?)del
NC_000003.12:g.(?_167687214)_(167695742_?)dup
NM_007217.4(PDCD10):c.-117+6518_20del
NM_007217.4(PDCD10):c.103C>T (p.Arg35Ter) rs1057517786
NM_007217.4(PDCD10):c.131T>G (p.Leu44Arg)
NM_007217.4(PDCD10):c.131_132insTT (p.Leu44_Arg45insTer) rs2108438340
NM_007217.4(PDCD10):c.143TCA[1] (p.Ile49del)
NM_007217.4(PDCD10):c.150+11A>G
NM_007217.4(PDCD10):c.151-14del
NM_007217.4(PDCD10):c.159A>G (p.Lys53=)
NM_007217.4(PDCD10):c.160G>T (p.Glu54Ter) rs2108409609
NM_007217.4(PDCD10):c.160_161del (p.Glu54fs) rs2108409594
NM_007217.4(PDCD10):c.160_163del (p.Glu54fs) rs1553761266
NM_007217.4(PDCD10):c.164del (p.Asn55fs) rs2108409560
NM_007217.4(PDCD10):c.178C>T (p.Gln60Ter) rs1720895403
NM_007217.4(PDCD10):c.211del (p.Ser71fs) rs2108409355
NM_007217.4(PDCD10):c.211dup (p.Ser71fs) rs2108409355
NM_007217.4(PDCD10):c.214G>A (p.Val72Met)
NM_007217.4(PDCD10):c.214G>C (p.Val72Leu) rs562763010
NM_007217.4(PDCD10):c.229dup (p.Thr77fs)
NM_007217.4(PDCD10):c.243del (p.Arg82fs)
NM_007217.4(PDCD10):c.268+18del
NM_007217.4(PDCD10):c.268+5C>G
NM_007217.4(PDCD10):c.270G>A (p.Glu90=)
NM_007217.4(PDCD10):c.271T>C (p.Tyr91His)
NM_007217.4(PDCD10):c.274_275del (p.Met92fs)
NM_007217.4(PDCD10):c.301C>T (p.Gln101Ter) rs1303470125
NM_007217.4(PDCD10):c.311A>G (p.Asn104Ser)
NM_007217.4(PDCD10):c.312C>T (p.Asn104=)
NM_007217.4(PDCD10):c.322C>T (p.Arg108Ter) rs1553760900
NM_007217.4(PDCD10):c.333dup (p.Gln112fs) rs1559952317
NM_007217.4(PDCD10):c.334_337del (p.Gln112fs) rs2108403745
NM_007217.4(PDCD10):c.377G>T (p.Arg126Met)
NM_007217.4(PDCD10):c.392_395del (p.Ile131fs)
NM_007217.4(PDCD10):c.394A>T (p.Lys132Ter) rs1577329627
NM_007217.4(PDCD10):c.396-19T>C
NM_007217.4(PDCD10):c.396-2A>C
NM_007217.4(PDCD10):c.404C>A (p.Ala135Asp)
NM_007217.4(PDCD10):c.430dup (p.Thr144fs)
NM_007217.4(PDCD10):c.442_443del (p.Val148fs) rs2108375192
NM_007217.4(PDCD10):c.456T>G (p.Tyr152Ter) rs976585767
NM_007217.4(PDCD10):c.474+4C>A rs1390197622
NM_007217.4(PDCD10):c.474+4_474+5insACAA
NM_007217.4(PDCD10):c.475-11del rs1396270491
NM_007217.4(PDCD10):c.475-4del rs772163237
NM_007217.4(PDCD10):c.475-8G>A
NM_007217.4(PDCD10):c.510C>G (p.Tyr170Ter) rs1553759059
NM_007217.4(PDCD10):c.522_528del (p.Phe174fs) rs2108373966
NM_007217.4(PDCD10):c.529dup (p.Thr177fs)
NM_007217.4(PDCD10):c.557+1G>A rs747383685
NM_007217.4(PDCD10):c.557+1G>T
NM_007217.4(PDCD10):c.557+4_557+7del rs1553759042
NM_007217.4(PDCD10):c.558-2A>C rs1553758385
NM_007217.4(PDCD10):c.558-2A>G rs1553758385
NM_007217.4(PDCD10):c.565_566del (p.Asn189fs) rs1719352298
NM_007217.4(PDCD10):c.573C>T (p.Phe191=)
NM_007217.4(PDCD10):c.576_579del (p.Ser193fs) rs2108363227
NM_007217.4(PDCD10):c.584dup (p.Asn195fs) rs1559941903
NM_007217.4(PDCD10):c.586C>T (p.Arg196Ter) rs1404676956
NM_007217.4(PDCD10):c.58A>G (p.Met20Val)
NM_007217.4(PDCD10):c.592dup (p.Ile198fs)
NM_007217.4(PDCD10):c.62_71del (p.Pro21fs) rs2108484048
NM_007217.4(PDCD10):c.71C>T (p.Ala24Val)
NM_007217.4(PDCD10):c.71_85del (p.Ala24_Pro28del)
NM_007217.4(PDCD10):c.97-1G>A

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