List of variants in gene NEB reported as likely benign for arthrogryposis syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.18113A>G (p.Asn6038Ser)	rs16830236	0.01192
NM_001164508.2(NEB):c.16669A>G (p.Ile5557Val)	rs113439353	0.00852
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=)	rs141338915	0.00448
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr)	rs12998234	0.00437
NM_001164508.2(NEB):c.17747A>G (p.Lys5916Arg)	rs73967567	0.00393
NM_001164508.2(NEB):c.1675-9T>G	rs75118047	0.00324
NM_001164508.2(NEB):c.19285G>A (p.Ala6429Thr)	rs149752325	0.00181
NM_001164508.2(NEB):c.19286C>A (p.Ala6429Asp)	rs139636644	0.00178
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly)	rs36105240	0.00148
NM_001164508.2(NEB):c.3987+11A>T	rs116903097	0.00092
NM_001164508.2(NEB):c.9052G>A (p.Asp3018Asn)	rs192098032	0.00081
NM_001164508.2(NEB):c.21270G>T (p.Pro7090=)	rs368887173	0.00016
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg)	rs200719359	0.00014
NM_001164508.2(NEB):c.19732-8C>T	rs137934821	0.00007
NM_001164508.2(NEB):c.1675-4C>G	rs369915027	0.00005
NM_001164508.2(NEB):c.5452-4A>G	rs376623225	0.00004
NM_001164508.2(NEB):c.14827-14CT[2]	rs536426422

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