ClinVar Miner

List of variants reported as pathogenic by Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg) rs63750512 0.00001
NC_000017.11:g.2665367T>C rs2544085840
NM_000391.4(TPP1):c.1266_1266+1delinsTACAAACAAACA rs2493796806
NM_000391.4(TPP1):c.1450dup (p.Ile484fs) rs2493795977
NM_000391.4(TPP1):c.182_184delinsC (p.Leu61fs) rs2493801988
NM_000454.5(SOD1):c.131A>G (p.His44Arg) rs121912435
NM_000454.5(SOD1):c.256G>C (p.Gly86Arg) rs121912436
NM_000454.5(SOD1):c.262G>A (p.Val88Met) rs1568810641
NM_000454.5(SOD1):c.43G>A (p.Val15Met) rs1568807400
NM_000454.5(SOD1):c.43G>C (p.Val15Leu) rs1568807400
NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp) rs386833731
NM_001130987.2(DYSF):c.2943C>T (p.Gly981=) rs886042637
NM_001371596.2(MFSD8):c.979del (p.Val327fs) rs2546083094
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) rs63751273
NM_001377265.1(MAPT):c.2179G>A (p.Gly727Ser) rs63750095
NM_003105.6(SORL1):c.1211+1G>A rs2496816791
NM_006059.4(LAMC3):c.3423dup (p.Pro1142fs) rs2538309608
NM_017882.3(CLN6):c.278C>A (p.Thr93Lys) rs150001589
NM_018941.4(CLN8):c.424dup (p.Ala142fs) rs2486442031
NM_018941.4(CLN8):c.447C>A (p.Cys149Ter) rs758707781
NM_018965.4(TREM2):c.40+1G>A rs766712618
NM_021971.4(GMPPB):c.358A>G (p.Met120Val) rs1559697515
NM_178012.5(TUBB2B):c.1172G>A (p.Arg391His) rs1581525683

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