ClinVar Miner

List of variants reported as pathogenic for branchiootorenal syndrome 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
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
NG_011735.4:g.308479_308480insAlu308464_308481dup
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter) rs1554615511
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) rs121909202
NM_000503.6(EYA1):c.1259del (p.Leu420fs) rs1809266780
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) rs121909196
NM_000503.6(EYA1):c.1350delinsCC (p.Asn451fs)
NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro) rs121909200
NM_000503.6(EYA1):c.1475+1G>C rs727503042
NM_000503.6(EYA1):c.1487_1488del (p.Val496fs) rs2128850318
NM_000503.6(EYA1):c.1514T>G (p.Leu505Arg) rs121909201
NM_000503.6(EYA1):c.1611T>A (p.Cys537Ter)
NM_000503.6(EYA1):c.1695_1698del (p.Lys565fs) rs606231355
NM_000503.6(EYA1):c.489dup (p.Leu164fs)
NM_000503.6(EYA1):c.678C>A (p.Tyr226Ter) rs529483320
NM_000503.6(EYA1):c.682C>T (p.Gln228Ter) rs1563422304
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.929del (p.Asn310fs) rs1816566795
NM_000503.6(EYA1):c.966+5G>A rs606231357
NM_000503.6(EYA1):c.981G>A (p.Trp327Ter)
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) rs104894478

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