ClinVar Miner

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

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp) rs754476100 0.00001
NC_000017.11:g.2665367T>C
NC_000023.11:g.13738845G>T
NM_000310.4(PPT1):c.234+2T>G
NM_000310.4(PPT1):c.335T>C (p.Met112Thr)
NM_000368.5(TSC1):c.912T>G (p.Tyr304Ter) rs118203466
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_001042432.2(CLN3):c.838-3C>G
NM_001130987.2(DYSF):c.2943C>T (p.Gly981=) rs886042637
NM_001288705.3(CSF1R):c.2768A>G (p.Tyr923Cys)
NM_001371596.2(MFSD8):c.979del (p.Val327fs)
NM_001759.4(CCND2):c.812C>A (p.Ser271Ter)
NM_003105.6(SORL1):c.1211+1G>A
NM_005591.4(MRE11):c.1783+1G>A
NM_006005.3(WFS1):c.1917G>A (p.Trp639Ter)
NM_006059.4(LAMC3):c.3423dup (p.Pro1142fs)
NM_006493.4(CLN5):c.350A>C (p.His117Pro)
NM_006493.4(CLN5):c.361G>A (p.Gly121Arg)
NM_006493.4(CLN5):c.525G>A (p.Trp175Ter)
NM_006493.4(CLN5):c.626A>G (p.Tyr209Cys)
NM_017882.3(CLN6):c.278C>A (p.Thr93Lys)
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe) rs777921628
NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys) rs1227254537
NM_018941.4(CLN8):c.424dup (p.Ala142fs)
NM_018941.4(CLN8):c.447C>A (p.Cys149Ter)
NM_018941.4(CLN8):c.544-1G>T
NM_018941.4(CLN8):c.607T>C (p.Cys203Arg)
NM_018965.4(TREM2):c.40+1G>A
NM_021971.4(GMPPB):c.358A>G (p.Met120Val) rs1559697515
NM_033409.4(SLC52A3):c.374C>T (p.Thr125Ile)
NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp) rs867319899
NM_178012.5(TUBB2B):c.1172G>A (p.Arg391His) rs1581525683
NM_206937.2(LIG4):c.220C>T (p.Gln74Ter)

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