List of variants in gene EYA1 reported as uncertain significance for branchiootorenal syndrome 1

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000503.6(EYA1):c.164C>T (p.Thr55Met)	rs201434219	0.00023
NM_000503.6(EYA1):c.*117G>A	rs886063087	0.00019
NM_000503.6(EYA1):c.671G>T (p.Gly224Val)	rs201509408	0.00006
NM_000503.6(EYA1):c.65G>A (p.Gly22Asp)	rs727503049	0.00005
NM_000503.6(EYA1):c.1318C>T (p.Arg440Trp)	rs376931849	0.00003
NM_000503.6(EYA1):c.1426G>A (p.Asp476Asn)	rs371408686	0.00003
NM_000503.6(EYA1):c.1523C>T (p.Ala508Val)	rs754901033	0.00003
NM_000503.6(EYA1):c.692A>G (p.Asn231Ser)	rs1563422226	0.00003
NM_000503.6(EYA1):c.910C>T (p.Arg304Cys)	rs772877702	0.00003
NM_000503.6(EYA1):c.26C>T (p.Pro9Leu)	rs766713665	0.00002
NM_000503.6(EYA1):c.49A>G (p.Ser17Gly)	rs747231434	0.00002
NM_000503.6(EYA1):c.-24G>T	rs759264949	0.00001
NM_000503.6(EYA1):c.289A>G (p.Ile97Val)	rs1422583050	0.00001
NM_000503.6(EYA1):c.340T>C (p.Phe114Leu)	rs772521196	0.00001
NM_000503.6(EYA1):c.403G>A (p.Gly135Ser)	rs747476629	0.00001
NM_000503.6(EYA1):c.491T>C (p.Leu164Pro)	rs1007684729	0.00001
NM_000503.6(EYA1):c.548A>G (p.Gln183Arg)	rs794727845	0.00001
NM_000503.6(EYA1):c.827-8T>A	rs1240727448	0.00001
NM_000503.6(EYA1):c.830A>G (p.Tyr277Cys)	rs374772533	0.00001
NM_000503.6(EYA1):c.1051-5T>G	rs2128904621
NM_000503.6(EYA1):c.1186G>A (p.Gly396Arg)	rs727503047
NM_000503.6(EYA1):c.1313A>T (p.Tyr438Phe)	rs1374801818
NM_000503.6(EYA1):c.1325A>G (p.Lys442Arg)	rs2128853814
NM_000503.6(EYA1):c.235A>G (p.Thr79Ala)	rs1554550645
NM_000503.6(EYA1):c.273-3T>C	rs2129031680
NM_000503.6(EYA1):c.76G>A (p.Gly26Ser)
NM_000503.6(EYA1):c.988G>T (p.Asp330Tyr)	rs1586100993

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