List of variants in gene combination DDX53, PTCHD1 reported as likely benign

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_182699.4(DDX53):c.319G>T (p.Ala107Ser)	rs148588561	0.00219
NM_182699.4(DDX53):c.490G>A (p.Glu164Lys)	rs143131443	0.00082
NM_182699.4(DDX53):c.1117T>C (p.Leu373=)	rs148579266	0.00077
NM_182699.4(DDX53):c.1059T>C (p.Pro353=)	rs146090889	0.00054
NM_182699.4(DDX53):c.13G>A (p.Ala5Thr)	rs142429958	0.00041
NM_182699.4(DDX53):c.400A>G (p.Ile134Val)	rs149084464	0.00026
NM_182699.4(DDX53):c.640C>T (p.Arg214Cys)	rs79705836	0.00018
NM_182699.4(DDX53):c.217G>C (p.Asp73His)	rs181028449	0.00013
NM_182699.4(DDX53):c.1044C>T (p.Ile348=)	rs529875384	0.00006
NM_182699.4(DDX53):c.80G>A (p.Ser27Asn)	rs151314033	0.00006
NM_182699.4(DDX53):c.1144C>A (p.Leu382Met)	rs746205056	0.00005
NM_182699.4(DDX53):c.1869A>C (p.Arg623Ser)	rs779685021	0.00004
NM_182699.4(DDX53):c.207A>C (p.Ser69=)	rs1328645145	0.00001
NM_182699.4(DDX53):c.813G>A (p.Gly271=)	rs773416651	0.00001
NM_182699.4(DDX53):c.1702G>A (p.Val568Ile)

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