ClinVar Miner

List of variants studied for arteriovenous malformations of the brain

Included ClinVar conditions (5):
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ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_033360.4(KRAS):c.5-18A>G rs200189105 0.00100
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu) rs200088377 0.00012
NM_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140 0.00011
NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser) rs577890523 0.00006
NM_033360.4(KRAS):c.4+5G>A rs201789109 0.00006
NM_004985.5(KRAS):c.451-5652C>T rs727505314 0.00004
NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser) rs1332140763 0.00003
NM_001395002.1(MAP4K4):c.1694G>A (p.Arg565Gln) rs781410462 0.00002
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00002
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_007217.4(PDCD10):c.474+5G>A rs1553759139 0.00001
NM_024870.4(PREX2):c.3355G>A (p.Ala1119Thr) rs778089198 0.00001
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_000362.5(TIMP3):c.311T>C (p.Leu104Pro) rs1555985260
NM_001114753.3(ENG):c.920dup (p.Asn307fs) rs1554810174
NM_001243133.2(NLRP3):c.29G>T (p.Arg10Met) rs2103083622
NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr) rs1554047435
NM_001367977.2(SCUBE2):c.2057G>A (p.Cys686Tyr) rs1555238867
NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser) rs1555630396
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1906C>T (p.Gln636Ter) rs1585998247
NM_004557.4(NOTCH4):c.4855C>A (p.Leu1619Met) rs755664291
NM_004985.5(KRAS):c.112-9C>T rs727504298
NM_004985.5(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) rs1951383854
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005228.5(EGFR):c.1881-858G>T rs909905659
NM_006513.4(SARS1):c.971T>C (p.Ile324Thr) rs1553178399
NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser) rs1555196298
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe) rs772718469
NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter) rs1555556099
NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe) rs1554079046
NM_033360.4(KRAS):c.*101_*106del rs1339924833

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