ClinVar Miner

List of variants reported by Northcott Neuroscience Laboratory, ANZAC Research Institute

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Total variants: 39
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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_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala) rs200561798 0.00022
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444 0.00020
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_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr) rs374098797 0.00009
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
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.1079C>T (p.Ala360Val) rs587777884 0.00003
NM_001365951.3(KIF1B):c.2115+6213G>T rs587777883 0.00003
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879 0.00001
NM_001003800.2(BICD2):c.2296C>T (p.Arg766Trp) rs587777889 0.00001
NM_000166.6(GJB1):c.259C>G (p.Pro87Ala) rs587777877
NM_000166.6(GJB1):c.580A>G (p.Met194Val) rs587777878
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu) rs587777876
NM_000399.5(EGR2):c.1232A>G (p.Asp411Gly) rs2132702182
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) rs587777885
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.1007T>C (p.Leu336Pro) rs587777881
NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu) rs587777882
NM_006158.5(NEFL):c.289C>T (p.Leu97Phe) rs587777888
NM_006158.5(NEFL):c.794A>G (p.Tyr265Cys) rs587777880
NM_006158.5(NEFL):c.803T>G (p.Leu268Arg) rs62636502
NM_014727.3(KMT2B):c.5073C>T (p.Gly1691=) rs2146461810
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_015046.7(SETX):c.7432A>C (p.Thr2478Pro) rs142303658
NM_015046.7(SETX):c.8C>T (p.Thr3Ile) rs28941475
NM_021625.5(TRPV4):c.1570T>G (p.Phe524Val) rs587777890
NM_021625.5(TRPV4):c.549G>C (p.Glu183Asp) rs141908793

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