List of variants in gene RECQL4 reported as likely pathogenic for not provided

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_004260.4(RECQL4):c.2464-1G>C	rs398124117	0.00012
NM_004260.4(RECQL4):c.2272C>T (p.Arg758Ter)	rs758790200	0.00003
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu)	rs386833844	0.00001
NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter)	rs1406641581	0.00001
NM_004260.4(RECQL4):c.3056-2A>C	rs786200889	0.00001
NM_004260.4(RECQL4):c.752del (p.Ser251fs)	rs1064796290	0.00001
NM_004260.3(RECQL4):c.359_374del (p.Gly120Alafs)	rs1554903709
NM_004260.4(RECQL4):c.1705-1G>A	rs569948031
NM_004260.4(RECQL4):c.1852del (p.Arg618fs)	rs909588820
NM_004260.4(RECQL4):c.2201-3A>G	rs1554898541
NM_004260.4(RECQL4):c.2211dup (p.Lys738fs)	rs1263096303
NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del)	rs766312203
NM_004260.4(RECQL4):c.3389_3393delCCAGA (p.Arg1131fs)	rs2130653843
NM_004260.4(RECQL4):c.3523C>T (p.Gln1175Ter)	rs879192998

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