ClinVar Miner

List of variants studied for branchio-oto-renal syndrome by OMIM

Included ClinVar conditions (6):
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Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001372066.1(TFAP2A):c.889+73T>C rs113027487 0.01394
NM_175875.5(SIX5):c.1655C>T (p.Thr552Met) rs80356464 0.00023
NM_175875.5(SIX5):c.472G>A (p.Ala158Thr) rs80356461 0.00020
NM_175875.5(SIX5):c.886G>A (p.Ala296Thr) rs80356462 0.00009
NM_175875.5(SIX5):c.1093G>A (p.Gly365Arg) rs80356463 0.00001
NG_011735.4:g.308479_308480insAlu308464_308481dup
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) rs121909202
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.1514T>G (p.Leu505Arg) rs121909201
NM_000503.6(EYA1):c.1695_1698del (p.Lys565fs) rs606231355
NM_000503.6(EYA1):c.489dup (p.Leu164fs)
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) rs121909195
NM_000503.6(EYA1):c.966+5G>A rs606231357
NM_001372066.1(TFAP2A):c.703_714del (p.Glu235_Arg238del)
NM_001372066.1(TFAP2A):c.716G>A (p.Arg239Gln) rs151344525
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly) rs121909574
NM_001372066.1(TFAP2A):c.791G>A (p.Gly264Glu) rs121909575
NM_001372066.1(TFAP2A):c.832_848delinsAGGAT (p.Leu278_Arg283delinsArgIle)
NM_001372066.1(TFAP2A):c.892G>A (p.Glu298Lys) rs267607108

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