List of variants in gene ELP2 reported by CeGaT Center for Human Genetics Tuebingen

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_018255.4(ELP2):c.1337T>C (p.Met446Thr)	rs149870655	0.00491
NM_018255.4(ELP2):c.1572G>C (p.Leu524=)	rs139343265	0.00478
NM_018255.4(ELP2):c.1627A>C (p.Thr543Pro)	rs17563617	0.00410
NM_018255.4(ELP2):c.2396C>T (p.Ala799Val)	rs35629953	0.00409
NM_018255.4(ELP2):c.1472G>C (p.Ser491Thr)	rs117536068	0.00175
NM_018255.4(ELP2):c.1938A>G (p.Thr646=)	rs141646549	0.00076
NM_018255.4(ELP2):c.2005A>G (p.Ser669Gly)	rs151280482	0.00020
NM_018255.4(ELP2):c.1817A>C (p.Gln606Pro)	rs911995621	0.00006
NM_018255.4(ELP2):c.524-3C>G	rs368472772	0.00001
NM_018255.4(ELP2):c.1434A>G (p.Thr478=)
NM_018255.4(ELP2):c.1714del (p.Cys572fs)	rs1283454201
NM_018255.4(ELP2):c.1837C>T (p.His613Tyr)	rs1360211542
NM_018255.4(ELP2):c.1917A>G (p.Ser639=)
NM_018255.4(ELP2):c.523+681A>T
NM_018255.4(ELP2):c.56G>A (p.Arg19Gln)

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