List of variants in gene RECQL4 reported as benign for congenital limb malformation

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_004260.4(RECQL4):c.3127T>C (p.Leu1043=)	rs4925828	0.98841
NM_004260.4(RECQL4):c.274T>C (p.Ser92Pro)	rs2721190	0.98532
NM_004260.4(RECQL4):c.801G>C (p.Glu267Asp)	rs4244612	0.41942
NM_004260.4(RECQL4):c.3236+13C>T	rs4244610	0.41215
NM_004260.4(RECQL4):c.1258+18G>A	rs4251689	0.38613
NM_004260.4(RECQL4):c.3393+8C>T	rs756627	0.37589
NM_004260.4(RECQL4):c.1621-15C>T	rs4244611	0.37577
NM_004260.4(RECQL4):c.3014G>A (p.Arg1005Gln)	rs4251691	0.36660
NM_004260.4(RECQL4):c.3502+24G>A	rs2279243	0.36505
NM_004260.4(RECQL4):c.738C>T (p.Ser246=)	rs4244613	0.36043
NM_004260.4(RECQL4):c.1576C>T (p.Leu526Phe)	rs200732690	0.00041
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly)	rs34642881
NM_004260.4(RECQL4):c.2296del (p.Arg766fs)	rs1827625671

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