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: 15

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HGVS	dbSNP	gnomAD frequency
NC_000017.11:g.2665367T>C
NM_000391.4(TPP1):c.1266_1266+1delinsTACAAACAAACA
NM_000391.4(TPP1):c.1450dup (p.Ile484fs)
NM_000391.4(TPP1):c.182_184delinsC (p.Leu61fs)
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)
NM_003105.6(SORL1):c.1211+1G>A
NM_006059.4(LAMC3):c.3423dup (p.Pro1142fs)
NM_017882.3(CLN6):c.278C>A (p.Thr93Lys)
NM_018941.4(CLN8):c.424dup (p.Ala142fs)
NM_018941.4(CLN8):c.447C>A (p.Cys149Ter)
NM_018965.4(TREM2):c.40+1G>A
NM_021971.4(GMPPB):c.358A>G (p.Met120Val)	rs1559697515
NM_178012.5(TUBB2B):c.1172G>A (p.Arg391His)	rs1581525683

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