List of variants in gene NEFM reported by Epithelial Biology; Institute of Medical Biology, Singapore

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_005382.2(NEFM):c.2089G>C (p.Gly697Arg)	rs59726684	0.01062
NM_005382.2(NEFM):c.1104T>C (p.Asn368=)	rs59419000	0.00772
NM_005382.2(NEFM):c.1423G>A (p.Ala475Thr)	rs61528354	0.00733
NM_005382.2(NEFM):c.2174C>A (p.Pro725Gln)	rs196863	0.00623
NM_005382.2(NEFM):c.387T>G (p.Ile129Met)	rs59062625	0.00145
NM_005382.2(NEFM):c.2572G>A (p.Val858Ile)	rs57658073	0.00141
NM_005382.2(NEFM):c.2153T>C (p.Val718Ala)	rs57810298	0.00071
NM_005382.2(NEFM):c.447G>C (p.Ala149=)	rs59222096	0.00069
NM_005382.2(NEFM):c.1006G>A (p.Gly336Ser)	rs56902012	0.00025
NM_005382.2(NEFM):c.104T>A (p.Phe35Tyr)	rs60857059	0.00019
NM_005382.2(NEFM):c.837C>A (p.Ser279Arg)	rs57688534	0.00009
NM_005382.2(NEFM):c.1420A>G (p.Thr474Ala)	rs59853292
NM_005382.2(NEFM):c.2263G>T (p.Val755Leu)	rs57294395
NM_005382.2(NEFM):c.2487_2489del (p.Val830del)	rs58277456

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