List of variants in gene RECQL4 reported as pathogenic for autosomal recessive disease

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_004260.4(RECQL4):c.1390+2del	rs386833843	0.00043
NM_004260.4(RECQL4):c.1573del (p.Cys525fs)	rs386833845	0.00033
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs)	rs746636748	0.00013
NM_004260.4(RECQL4):c.2464-1G>C	rs398124117	0.00012
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter)	rs137853229	0.00009
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter)	rs386833851	0.00004
NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter)	rs1406641581	0.00001
NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs)	rs1060501383
NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter)	rs137853230
NM_004260.4(RECQL4):c.806G>A (p.Trp269Ter)	rs137853231

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