List of variants reported as pathogenic for Melnick-Fraser syndrome by Invitae

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 71

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HGVS	dbSNP	gnomAD frequency
NM_000503.6(EYA1):c.229C>T (p.Arg77Ter)	rs200164773	0.00001
NC_000008.10:g.(?_72111575)_(72246429_?)del
NC_000008.10:g.(?_72111575)_(72267140_?)del
NC_000008.10:g.(?_72123371)_(72123511_?)del
NC_000008.11:g.(?_71199320)_(71356506_?)del
NC_000008.11:g.(?_71244583)_(71244712_?)del
NC_000008.11:g.(?_71244583)_(71322288_?)del
NC_000008.11:g.(?_71269720)_(71269843_?)del
NC_000008.11:g.(?_71269720)_(71271917_?)del
NM_000503.6(EYA1):c.1013_1016del (p.Ser338fs)	rs1554615536
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter)	rs1554615511
NM_000503.6(EYA1):c.1050+1G>T	rs1816289467
NM_000503.6(EYA1):c.1050+4A>G
NM_000503.6(EYA1):c.1051-2A>G	rs2128904613
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter)	rs121909202
NM_000503.6(EYA1):c.1084del (p.Met362fs)
NM_000503.6(EYA1):c.1140+1G>T	rs1812855196
NM_000503.6(EYA1):c.1182dup (p.Asn395Ter)	rs2128854678
NM_000503.6(EYA1):c.1186G>T (p.Gly396Ter)	rs727503047
NM_000503.6(EYA1):c.1200-1G>A	rs1563634200
NM_000503.6(EYA1):c.1236dup (p.Ala413fs)	rs2128854105
NM_000503.6(EYA1):c.1248dup (p.Asn417Ter)
NM_000503.6(EYA1):c.1272dup (p.Arg425fs)	rs2128854024
NM_000503.6(EYA1):c.1315del (p.Arg439fs)	rs2128853840
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln)	rs121909196
NM_000503.6(EYA1):c.1325_1326del (p.Lys442fs)	rs2128853806
NM_000503.6(EYA1):c.1329_1330del (p.Glu443fs)	rs1554596461
NM_000503.6(EYA1):c.1354_1355del (p.Val452fs)	rs1585817892
NM_000503.6(EYA1):c.1360+5G>A
NM_000503.6(EYA1):c.1418_1421del (p.Ala473fs)	rs1585812463
NM_000503.6(EYA1):c.1433G>A (p.Trp478Ter)	rs1475718221
NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro)	rs121909200
NM_000503.6(EYA1):c.1460C>A (p.Ser487Ter)	rs139717960
NM_000503.6(EYA1):c.1476-2A>T	rs2128850357
NM_000503.6(EYA1):c.1487_1488del (p.Val496fs)	rs2128850318
NM_000503.6(EYA1):c.1545T>A (p.Tyr515Ter)
NM_000503.6(EYA1):c.1570_1571insTA (p.Glu524fs)
NM_000503.6(EYA1):c.1598-1G>C
NM_000503.6(EYA1):c.1598-2A>G	rs1808471410
NM_000503.6(EYA1):c.1619_1620del (p.Arg540fs)	rs2128835431
NM_000503.6(EYA1):c.1627C>T (p.Gln543Ter)
NM_000503.6(EYA1):c.1635del (p.Phe545fs)	rs1808464696
NM_000503.6(EYA1):c.1644del (p.Val549fs)	rs2128835339
NM_000503.6(EYA1):c.1684C>T (p.Gln562Ter)	rs1481254965
NM_000503.6(EYA1):c.1698+1G>T	rs530147851
NM_000503.6(EYA1):c.1701del (p.His567fs)
NM_000503.6(EYA1):c.1743_1752dup (p.His585fs)
NM_000503.6(EYA1):c.1771dup (p.Tyr591fs)
NM_000503.6(EYA1):c.355C>T (p.Gln119Ter)	rs2129031508
NM_000503.6(EYA1):c.402C>G (p.Tyr134Ter)
NM_000503.6(EYA1):c.466C>T (p.Gln156Ter)	rs1822069596
NM_000503.6(EYA1):c.470C>A (p.Ser157Ter)	rs1586333305
NM_000503.6(EYA1):c.490dup (p.Leu164fs)	rs2129025227
NM_000503.6(EYA1):c.532del (p.Ala178fs)	rs1554548840
NM_000503.6(EYA1):c.602C>G (p.Ser201Ter)	rs1563423589
NM_000503.6(EYA1):c.637C>T (p.Gln213Ter)	rs2129000663
NM_000503.6(EYA1):c.639+1G>A	rs869025180
NM_000503.6(EYA1):c.640-15G>A	rs2129000122
NM_000503.6(EYA1):c.640-15_698del	rs1554541834
NM_000503.6(EYA1):c.654T>G (p.Tyr218Ter)	rs2129000083
NM_000503.6(EYA1):c.678C>G (p.Tyr226Ter)
NM_000503.6(EYA1):c.682C>T (p.Gln228Ter)	rs1563422304
NM_000503.6(EYA1):c.775C>T (p.Gln259Ter)	rs2128999627
NM_000503.6(EYA1):c.782del (p.Pro261fs)	rs2128999606
NM_000503.6(EYA1):c.806del (p.Ala269fs)	rs1819903817
NM_000503.6(EYA1):c.880C>T (p.Arg294Ter)	rs1816578250
NM_000503.6(EYA1):c.889C>T (p.Arg297Ter)	rs1131691667
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter)	rs121909195
NM_000503.6(EYA1):c.922dup (p.Arg308fs)
NM_000503.6(EYA1):c.950del (p.Pro317fs)
NM_000503.6(EYA1):c.966+5G>A	rs606231357

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