ClinVar Miner

List of variants in gene NEB reported as uncertain significance for Arthrogryposis multiplex congenita 6

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu) rs35194393 0.00014
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp) rs546869744 0.00011
NM_001164508.2(NEB):c.12394G>A (p.Glu4132Lys) rs2153960539
NM_001164508.2(NEB):c.14911G>A (p.Ala4971Thr)
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[3] (p.52LAQPA[3]) rs377452683
NM_001164508.2(NEB):c.16809C>A (p.Asp5603Glu)
NM_001164508.2(NEB):c.18416C>T (p.Ser6139Leu) rs2153726853
NM_001164508.2(NEB):c.20158-6A>G rs1553715636
NM_001164508.2(NEB):c.21302T>G (p.Leu7101Trp)
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly) rs1553521537
NM_001164508.2(NEB):c.4853A>G (p.Tyr1618Cys) rs759773612

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