List of variants in gene ETHE1 reported by Natera, Inc.

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser)	rs116440799	0.01995
NM_014297.5(ETHE1):c.227-9C>G	rs199921503	0.00367
NM_014297.5(ETHE1):c.278C>T (p.Ser93Phe)	rs199827754	0.00031
NM_014297.5(ETHE1):c.150G>C (p.Leu50=)	rs142193567	0.00026
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr)	rs138958351	0.00019
NM_014297.5(ETHE1):c.375+7T>C	rs752466453	0.00007
NM_014297.5(ETHE1):c.46C>T (p.Arg16Cys)	rs761653656	0.00007
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp)	rs28940289	0.00004
NM_014297.5(ETHE1):c.426C>T (p.Phe142=)	rs566533497	0.00002
NM_014297.5(ETHE1):c.427G>A (p.Val143Ile)	rs201846162	0.00002
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln)	rs745656120	0.00002
NM_014297.5(ETHE1):c.420C>T (p.Val140=)	rs374482389	0.00001
NM_014297.5(ETHE1):c.489G>A (p.Arg163=)	rs533076307	0.00001
NM_014297.5(ETHE1):c.48C>G (p.Arg16=)	rs775755606	0.00001
NM_014297.5(ETHE1):c.554T>G (p.Leu185Arg)	rs387906987	0.00001
NM_014297.5(ETHE1):c.708G>T (p.Gln236His)	rs1218439131	0.00001
NM_014297.5(ETHE1):c.757A>G (p.Thr253Ala)	rs1971779762	0.00001
NM_014297.5(ETHE1):c.131_132del (p.Glu44fs)	rs761827730
NM_014297.5(ETHE1):c.149T>A (p.Leu50Gln)	rs1309080740
NM_014297.5(ETHE1):c.221dup (p.Tyr74Ter)	rs863223955
NM_014297.5(ETHE1):c.299C>T (p.Ser100Phe)	rs1972243964
NM_014297.5(ETHE1):c.372C>T (p.Arg124=)	rs1972241147
NM_014297.5(ETHE1):c.378G>T (p.Ala126=)	rs138427304
NM_014297.5(ETHE1):c.49G>A (p.Gly17Ser)	rs1468127110
NM_014297.5(ETHE1):c.505+4A>G	rs1568493446
NM_014297.5(ETHE1):c.596-2A>G	rs863223954
NM_014297.5(ETHE1):c.761C>T (p.Ala254Val)	rs1366031091
NM_014297.5(ETHE1):c.79C>A (p.Gln27Lys)	rs749803238

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