List of variants in gene EFHC1 reported as likely benign by GeneDx

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_018100.4(EFHC1):c.1137+31G>T	rs115160207	0.00595
NC_000006.12:g.52420101A>G	rs150082340	0.00588
NM_018100.4(EFHC1):c.1493-34C>T	rs77741653	0.00566
NM_018100.4(EFHC1):c.1279-57G>T	rs115736914	0.00557
NM_018100.4(EFHC1):c.917-72G>A	rs114196074	0.00554
NC_000006.12:g.52420332G>T	rs114013470	0.00080
NM_018100.4(EFHC1):c.97T>C (p.Tyr33His)	rs374402088	0.00036
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=)	rs145194882	0.00021
NM_018100.4(EFHC1):c.1584C>T (p.Leu528=)	rs774640110	0.00006
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)	rs369503191	0.00006
NM_018100.4(EFHC1):c.627T>C (p.Leu209=)	rs141142186	0.00003
NM_018100.4(EFHC1):c.-13G>A	rs1057520834	0.00001
NM_018100.4(EFHC1):c.1278+15T>C	rs376515287	0.00001
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala)	rs750899949	0.00001
NM_018100.4(EFHC1):c.547G>A (p.Val183Ile)	rs769591944	0.00001
NM_018100.4(EFHC1):c.*140C>T	rs78906153
NM_018100.4(EFHC1):c.1852-48G>T	rs60636755

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