List of variants in gene EFL1 reported as uncertain significance for Shwachman-Diamond syndrome 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln)	rs376095522	0.00004
NM_024580.6(EFL1):c.2224A>G (p.Ile742Val)	rs765113282	0.00003
NM_024580.6(EFL1):c.1232T>A (p.Ile411Asn)	rs775430621	0.00001
NM_024580.6(EFL1):c.787C>G (p.Leu263Val)	rs751006899	0.00001
NM_024580.6(EFL1):c.1492G>A (p.Glu498Lys)	rs2074689405
NM_024580.6(EFL1):c.1971C>G (p.His657Gln)	rs779232326
NM_024580.6(EFL1):c.2632C>A (p.Leu878Ile)
NM_024580.6(EFL1):c.2866C>A (p.Pro956Thr)	rs1457781093
NM_024580.6(EFL1):c.3271A>C (p.Met1091Leu)

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