ClinVar Miner

List of variants reported as uncertain significance by Myllykangas group, University of Helsinki

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001733.7(C1R):c.336G>C (p.Met112Ile) rs139531404 0.00271
NM_000484.4(APP):c.1795G>A (p.Glu599Lys) rs140304729 0.00143
NM_001845.6(COL4A1):c.401C>T (p.Pro134Leu) rs140517831 0.00037
NM_005957.5(MTHFR):c.938G>C (p.Gly313Ala) rs200890679 0.00021
NM_031443.4(CCM2):c.328G>A (p.Asp110Asn) rs41280666 0.00019
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys) rs370504038 0.00012
NM_002775.5(HTRA1):c.961G>A (p.Ala321Thr) rs587776449 0.00010
NM_005219.5(DIAPH1):c.1093T>C (p.Phe365Leu) rs750318437 0.00009
NM_000447.3(PSEN2):c.53C>T (p.Thr18Met) rs143061887 0.00006
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp) rs78347903 0.00006
NM_006172.4(NPPA):c.377G>A (p.Arg126Gln) rs1803268 0.00005
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_000548.5(TSC2):c.4432G>A (p.Asp1478Asn) rs45517343 0.00003
NM_001127222.2(CACNA1A):c.1348T>C (p.Ser450Pro) rs1308599413 0.00003
NM_006031.6(PCNT):c.2179C>G (p.His727Asp) rs767864228 0.00003
NM_001257180.2(SLC20A2):c.1858C>T (p.Arg620Trp) rs1001310092 0.00002
NM_001733.7(C1R):c.674G>A (p.Arg225Gln) rs769328977 0.00001
NM_001846.4(COL4A2):c.4291C>T (p.Arg1431Cys) rs139124960 0.00001
NM_013444.4(UBQLN2):c.304A>G (p.Ile102Val) rs771147923 0.00001
NM_014043.4(CHMP2B):c.157G>C (p.Gly53Arg) rs755409238 0.00001
NM_015039.4(NMNAT2):c.427G>A (p.Val143Met) rs199765030 0.00001
NM_015268.4(DNAJC13):c.1036C>G (p.Leu346Val) rs746620483 0.00001
NM_020814.3(MARCHF4):c.631A>G (p.Lys211Glu) rs756981946 0.00001
NM_024656.4(COLGALT1):c.1411C>T (p.Arg471Trp) rs1226022092 0.00001
NM_194454.3(KRIT1):c.1565T>C (p.Ile522Thr) rs758188972 0.00001
NM_000311.5(PRNP):c.713C>T (p.Pro238Leu) rs1489076172
NM_000345.4(SNCA):c.370G>T (p.Ala124Ser) rs1358566725
NM_001069.3(TUBB2A):c.1309G>A (p.Glu437Lys) rs369148878
NM_001080534.3(UNC13C):c.1326GAA[1] (p.Lys443del) rs746069739
NM_001134232.2(TMEM106B):c.115G>C (p.Asp39His) rs770339502
NM_001134407.3(GRIN2A):c.937A>G (p.Ile313Val) rs1465063447
NM_001845.6(COL4A1):c.*36T>A rs2138415337
NM_001845.6(COL4A1):c.2440G>A (p.Gly814Arg) rs1878014262
NM_002775.5(HTRA1):c.847G>A (p.Gly283Arg) rs766433250
NM_005359.6(SMAD4):c.1060G>A (p.Val354Met) rs1910123378
NM_018676.4(THSD1):c.1619dup (p.Met540fs) rs2137721052
NM_021999.5(ITM2B):c.193C>T (p.Leu65Phe) rs1951769958
NM_031443.4(CCM2):c.1283T>G (p.Ile428Ser) rs1784229890
NM_033305.3(VPS13A):c.9257T>C (p.Met3086Thr) rs753597538

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