ClinVar Miner

List of variants in gene EYA1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000503.6(EYA1):c.1755T>C (p.His585=) rs10103397 0.35033
NM_000503.6(EYA1):c.1278C>T (p.Gly426=) rs4738118 0.13734
NM_000503.6(EYA1):c.813A>G (p.Thr271=) rs1445398 0.08547
NM_000503.6(EYA1):c.58C>G (p.Pro20Ala) rs1445404 0.05809
NM_000503.6(EYA1):c.556+18G>T rs113694988 0.02938
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891 0.00286
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960 0.00069
NM_000503.6(EYA1):c.884T>C (p.Leu295Ser) rs146687496 0.00041
NM_000503.6(EYA1):c.35G>A (p.Arg12His) rs74720958 0.00035
NM_000503.6(EYA1):c.*9G>A rs370353759 0.00019
NM_000503.6(EYA1):c.325T>C (p.Tyr109His) rs141779040 0.00011
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln) rs148647933 0.00007
NM_000503.6(EYA1):c.1530G>A (p.Ala510=) rs147434089 0.00005
NM_000503.6(EYA1):c.299C>A (p.Thr100Asn) rs373501480 0.00005
NM_000503.6(EYA1):c.678C>T (p.Tyr226=) rs529483320 0.00004
NM_000503.6(EYA1):c.107C>T (p.Thr36Ile) rs727503048 0.00002
NM_000503.6(EYA1):c.1199+8C>T rs770687311 0.00002
NM_000503.6(EYA1):c.701C>T (p.Pro234Leu) rs761632944 0.00001
NM_000503.6(EYA1):c.1082G>A (p.Arg361Gln)
NM_000503.6(EYA1):c.133_149del (p.Thr44_Glu45insTer)
NM_000503.6(EYA1):c.1360+5G>A
NM_000503.6(EYA1):c.1475+6del
NM_000503.6(EYA1):c.1704G>A (p.Ala568=)
NM_000503.6(EYA1):c.1771T>A (p.Tyr591Asn)
NM_000503.6(EYA1):c.339G>A (p.Gln113=)
NM_000503.6(EYA1):c.602C>G (p.Ser201Ter) rs1563423589
NM_000503.6(EYA1):c.717T>G (p.Tyr239Ter)
NM_000503.6(EYA1):c.838A>C (p.Ile280Leu)
NM_000503.6(EYA1):c.889C>T (p.Arg297Ter) rs1131691667
NM_000503.6(EYA1):c.911G>A (p.Arg304His)
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) rs121909195
NM_000503.6(EYA1):c.971T>C (p.Val324Ala)

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