List of variants in gene ELN studied for chromosomal disorder

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: 27

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HGVS	dbSNP	gnomAD frequency
NM_000501.4(ELN):c.2086+5G>C	rs111866046	0.02303
NM_000501.4(ELN):c.1358-199G>A	rs781963901	0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val)	rs145612009	0.00034
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)	rs536177240	0.00026
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu)	rs149117932	0.00021
NM_000501.4(ELN):c.381G>A (p.Ala127=)	rs148216123	0.00019
NM_000501.4(ELN):c.249C>T (p.Pro83=)	rs565001805	0.00016
NM_000501.4(ELN):c.1675G>A (p.Val559Ile)	rs560081099	0.00015
NM_000501.4(ELN):c.35G>T (p.Gly12Val)	rs367634266	0.00012
NM_000501.4(ELN):c.202G>A (p.Gly68Arg)	rs372566075	0.00011
NM_000501.4(ELN):c.403G>A (p.Gly135Arg)	rs373650953	0.00007
NM_000501.4(ELN):c.1543G>A (p.Val515Met)	rs376258672	0.00006
NM_000501.4(ELN):c.1363G>A (p.Gly455Arg)	rs782260475	0.00004
NM_000501.4(ELN):c.92G>A (p.Gly31Glu)	rs782625771	0.00004
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu)	rs140085632	0.00003
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr)	rs973649598	0.00001
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg)	rs782359367	0.00001
NM_000501.4(ELN):c.134-16T>C	rs782791376	0.00001
NM_000501.4(ELN):c.893T>C (p.Val298Ala)	rs782205353	0.00001
GRCh37/hg19 7q11.23(chr7:73475600-73478833)x1
NM_000501.3(ELN):c.-70G>C	rs537200597
NM_000501.4(ELN):c.1104_1105del (p.Ser369fs)	rs1794880739
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)	rs199621188
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del)	rs781838239
NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe)	rs863223529
NM_000501.4(ELN):c.166del (p.Leu56fs)	rs2131266202
NM_000501.4(ELN):c.583T>G (p.Phe195Val)

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