List of variants reported as pathogenic for Dilated cardiomyopathy 1J by Labcorp Genetics (formerly Invitae), Labcorp

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		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_004100.5(EYA4):c.511G>C (p.Gly171Arg)	rs1471362858	0.00001
NC_000006.11:g.(?_133595919)_(133595971_?)del
NC_000006.11:g.(?_133782232)_(133783922_?)del
NC_000006.12:g.(?_133525015)_(133528805_?)del
NM_004100.5(EYA4):c.1221_1225del (p.Arg408fs)	rs1562498114
NM_004100.5(EYA4):c.1241_1248del (p.Phe414fs)	rs1798601140
NM_004100.5(EYA4):c.1291C>T (p.Gln431Ter)	rs2535335554
NM_004100.5(EYA4):c.13C>T (p.Gln5Ter)
NM_004100.5(EYA4):c.1416_1417del (p.Gly473fs)	rs2535340134
NM_004100.5(EYA4):c.1472del (p.Leu491fs)	rs2535341785
NM_004100.5(EYA4):c.1574G>A (p.Trp525Ter)	rs2535379771
NM_004100.5(EYA4):c.1759C>T (p.Arg587Ter)	rs1554275988
NM_004100.5(EYA4):c.1776dup (p.Gly593fs)	rs2535525055
NM_004100.5(EYA4):c.211G>T (p.Glu71Ter)	rs537561870
NM_004100.5(EYA4):c.222del (p.Val75fs)
NM_004100.5(EYA4):c.223_224del (p.Val75fs)	rs2534357852
NM_004100.5(EYA4):c.242G>A (p.Trp81Ter)	rs922202185
NM_004100.5(EYA4):c.243del (p.Trp81fs)
NM_004100.5(EYA4):c.337_350del (p.Thr112_Gly113insTer)
NM_004100.5(EYA4):c.579C>G (p.Tyr193Ter)	rs747954279
NM_004100.5(EYA4):c.616_617del (p.Ser206fs)
NM_004100.5(EYA4):c.61del (p.Val21fs)	rs2484393292
NM_004100.5(EYA4):c.646C>T (p.Gln216Ter)
NM_004100.5(EYA4):c.67C>T (p.Gln23Ter)	rs1293420539
NM_004100.5(EYA4):c.832C>T (p.Gln278Ter)	rs2128674457

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