ClinVar Miner

List of variants reported as benign for neuronopathy, distal hereditary motor, autosomal recessive 4 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser) rs61741379 0.28900
NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=) rs730600 0.27319
NM_020631.6(PLEKHG5):c.*290T>C rs14708 0.27269
NM_020631.6(PLEKHG5):c.-88+5G>A rs3007429 0.22575
NM_003790.3(TNFRSF25):c.-16C>T rs3007417 0.19870
NM_020631.5(PLEKHG5):c.*990C>T rs3007418 0.19422
NM_020631.6(PLEKHG5):c.1801-12C>A rs943584 0.11198
NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=) rs62639695 0.10172
NM_020631.5(PLEKHG5):c.*1304G>A rs45604837 0.09117
NM_020631.6(PLEKHG5):c.43+13G>A rs78593902 0.07001
NM_020631.6(PLEKHG5):c.1240G>A (p.Ala414Thr) rs74809741 0.06203
NM_020631.6(PLEKHG5):c.1318A>G (p.Met440Val) rs61740145 0.06002
NM_020631.6(PLEKHG5):c.2307G>A (p.Thr769=) rs3138150 0.05741
NM_020631.6(PLEKHG5):c.2428G>A (p.Gly810Ser) rs76625876 0.05582
NM_020631.6(PLEKHG5):c.1179G>A (p.Leu393=) rs112471131 0.05506
NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997 0.02621
NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322 0.02505
NM_020631.5(PLEKHG5):c.*765T>A rs538175057 0.01642
NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419 0.01628
NM_020631.5(PLEKHG5):c.*1313C>T rs45574533 0.01380
NM_020631.6(PLEKHG5):c.795+8G>A rs114275646 0.01154
NM_020631.5(PLEKHG5):c.*843G>T rs12735472 0.01132
NM_020631.6(PLEKHG5):c.2331C>T (p.Ser777=) rs61749272 0.00952
NM_020631.6(PLEKHG5):c.30C>T (p.Asp10=) rs114209691 0.00830
NM_020631.6(PLEKHG5):c.*63C>T rs45446394 0.00800
NM_020631.6(PLEKHG5):c.*108G>A rs11800788 0.00786
NM_020631.6(PLEKHG5):c.*27T>C rs117494970 0.00566
NM_020631.5(PLEKHG5):c.*1052G>A rs148036862 0.00467
NM_020631.6(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455 0.00463
NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys) rs148560273 0.00443
NM_020631.6(PLEKHG5):c.440-6A>G rs202049535 0.00443
NM_020631.6(PLEKHG5):c.495G>A (p.Lys165=) rs150772386 0.00183
NM_020631.6(PLEKHG5):c.260T>C (p.Ile87Thr) rs117505788 0.00136
NM_020631.5(PLEKHG5):c.*1158G>C rs2986754
NM_020631.5(PLEKHG5):c.*697C>T rs3176900

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