ClinVar Miner

List of variants reported as pathogenic for dementia by Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris

Included ClinVar conditions (247):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001114748.2(TMEM240):c.239C>T (p.Thr80Met) rs606231454 0.00003
NM_005861.4(STUB1):c.673C>T (p.Arg225Ter) rs1395191127 0.00001
NM_005861.4(STUB1):c.823_824del (p.Leu275fs) rs748984540 0.00001
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln) rs151344523 0.00001
NM_000021.4(PSEN1):c.300dup (p.Lys101Ter) rs2140037322
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His) rs201568579
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg) rs1057518011
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001130698.2(TRPC3):c.1419del (p.Val474fs) rs2149125943
NM_001130823.3(DNMT1):c.1709C>T (p.Ala570Val) rs397509392
NM_001378452.1(ITPR1):c.722G>A (p.Arg241Lys) rs2125159664
NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr) rs1553758021
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378969.1(KCND3):c.677TCT[1] (p.Phe227del) rs397515475
NM_002739.5(PRKCG):c.1308C>G (p.Tyr436Ter) rs955612922
NM_002739.5(PRKCG):c.413T>A (p.Val138Glu) rs386134168
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_005861.4(STUB1):c.199G>A (p.Ala67Thr) rs2151504209
NM_005861.4(STUB1):c.682C>T (p.Pro228Ser) rs2039691550
NM_005861.4(STUB1):c.689_692del (p.Tyr230fs) rs754446573
NM_005861.4(STUB1):c.791_792del (p.Val264fs) rs1732133553
NM_005861.4(STUB1):c.818_819dup (p.Pro274fs) rs2039704195
NM_005861.4(STUB1):c.97G>A (p.Gly33Ser) rs2039634238
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp) rs397514749
NM_007289.4(MME):c.2154G>T (p.Arg718Ser) rs1284714866
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) rs755221106

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