ClinVar Miner

List of variants reported as benign for not provided by Northcott Neuroscience Laboratory, ANZAC Research Institute

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser) rs149377346 0.00718
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496 0.00287
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp) rs139200312 0.00015
NM_001005373.4(LRSAM1):c.1046A>G (p.Gln349Arg) rs200595164 0.00011
NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr) rs374098797 0.00009
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln) rs369542231 0.00004
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642 0.00004
NM_001003800.2(BICD2):c.2296C>T (p.Arg766Trp) rs587777889 0.00001
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=) rs17850877
NM_003680.4(YARS1):c.241G>C (p.Asp81His) rs587777891
NM_006158.5(NEFL):c.289C>T (p.Leu97Phe) rs587777888
NM_015046.7(SETX):c.7432A>C (p.Thr2478Pro) rs142303658
NM_021625.5(TRPV4):c.1570T>G (p.Phe524Val) rs587777890

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