List of variants in gene combination ESR1, SYNE1 reported as uncertain significance for autosomal recessive disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.*191A>G	rs567194577	0.00049
NM_182961.4(SYNE1):c.*433A>G	rs886061189	0.00034
NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys)	rs144206837	0.00034
NM_182961.4(SYNE1):c.*101C>T	rs571719631	0.00021
NM_182961.4(SYNE1):c.*186G>A	rs766338162	0.00021
NM_182961.4(SYNE1):c.26210G>T (p.Gly8737Val)	rs772814249	0.00007
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys)	rs377446250	0.00007
NM_182961.4(SYNE1):c.26279G>A (p.Gly8760Glu)	rs747635401	0.00004
NM_182961.4(SYNE1):c.26213del (p.Arg8738fs)	rs774317818	0.00002
NM_182961.4(SYNE1):c.26278G>A (p.Gly8760Arg)	rs758464869	0.00002
NM_182961.4(SYNE1):c.*138A>G	rs2051574407	0.00001
NM_182961.4(SYNE1):c.*166G>A	rs958754447	0.00001
NM_182961.4(SYNE1):c.*181C>T	rs150886628	0.00001
NM_182961.4(SYNE1):c.*368T>C	rs927168592	0.00001
NM_182961.4(SYNE1):c.26173G>A (p.Asp8725Asn)	rs767663894	0.00001
NM_182961.4(SYNE1):c.26177C>T (p.Ser8726Phe)	rs751627369	0.00001
NM_182961.4(SYNE1):c.26213G>A (p.Arg8738His)	rs1276774540	0.00001
NM_182961.4(SYNE1):c.26215G>A (p.Gly8739Ser)	rs780574537	0.00001
NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln)	rs757466963	0.00001
NM_182961.4(SYNE1):c.26345G>A (p.Arg8782Gln)	rs550697327	0.00001
NM_182961.4(SYNE1):c.26362C>T (p.Leu8788Phe)	rs747405346	0.00001
NM_182961.4(SYNE1):c.*295T>C	rs886061190
NM_182961.4(SYNE1):c.*449T>A	rs886061188
NM_182961.4(SYNE1):c.*449T>C	rs886061188
NM_182961.4(SYNE1):c.*515T>C	rs886061187
NM_182961.4(SYNE1):c.26180C>T (p.Ser8727Phe)	rs1585315718
NM_182961.4(SYNE1):c.26195G>A (p.Gly8732Glu)	rs1554349162
NM_182961.4(SYNE1):c.26204G>T (p.Arg8735Leu)	rs2295192
NM_182961.4(SYNE1):c.26207C>A (p.Ser8736Tyr)	rs1258213221
NM_182961.4(SYNE1):c.26266CTC[2] (p.Leu8758del)	rs1310428962
NM_182961.4(SYNE1):c.26285C>T (p.Ala8762Val)	rs983040762
NM_182961.4(SYNE1):c.26308G>A (p.Glu8770Lys)
NM_182961.4(SYNE1):c.26352C>A (p.Phe8784Leu)	rs2051624339
NM_182961.4(SYNE1):c.26372C>A (p.Thr8791Lys)	rs567376316
NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met)	rs567376316
NM_182961.4(SYNE1):c.26375A>G (p.Asn8792Ser)	rs754932611

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