ClinVar Miner

List of variants studied for Patterned macular dystrophy 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001903.5(CTNNA1):c.1899+18A>G rs562041100 0.00058
NM_001903.5(CTNNA1):c.1782C>T (p.Ala594=) rs142503438 0.00044
NM_001903.5(CTNNA1):c.2504C>T (p.Ala835Val) rs377477287 0.00009
NM_001903.5(CTNNA1):c.733T>C (p.Tyr245His) rs757481572 0.00009
NM_001903.5(CTNNA1):c.293G>A (p.Arg98Gln) rs746832628 0.00008
NM_001903.5(CTNNA1):c.2714G>A (p.Ser905Asn) rs756360361 0.00006
NM_001903.5(CTNNA1):c.2558A>G (p.Asn853Ser) rs199994641 0.00004
NM_001903.5(CTNNA1):c.637A>G (p.Ile213Val) rs201391408 0.00004
NM_001903.5(CTNNA1):c.1192A>G (p.Asn398Asp) rs773003463 0.00003
NM_001903.5(CTNNA1):c.1486C>T (p.Arg496Cys) rs754789006 0.00003
NM_001903.5(CTNNA1):c.1135C>T (p.Arg379Cys) rs773022966 0.00002
NM_001903.5(CTNNA1):c.161G>A (p.Arg54His) rs746153198 0.00002
NM_001903.5(CTNNA1):c.1618C>T (p.Arg540Cys) rs1203968888 0.00001
NM_001903.5(CTNNA1):c.1619G>A (p.Arg540His) rs139655691 0.00001
NM_001903.5(CTNNA1):c.1663G>A (p.Val555Ile) rs201877485 0.00001
NM_001903.5(CTNNA1):c.2442C>T (p.Ser814=) rs143248909 0.00001
NM_001903.5(CTNNA1):c.339T>A (p.Asp113Glu) rs773771416 0.00001
NM_001903.5(CTNNA1):c.347G>A (p.Cys116Tyr) rs761084210 0.00001
NM_001903.5(CTNNA1):c.362G>A (p.Arg121Gln) rs749878552 0.00001
NM_001903.5(CTNNA1):c.779A>G (p.Gln260Arg) rs1043277546 0.00001
NM_001903.5(CTNNA1):c.1322C>T (p.Ser441Leu)
NM_001903.5(CTNNA1):c.1401T>A (p.Ala467=) rs1762093946
NM_001903.5(CTNNA1):c.1480C>A (p.Gln494Lys) rs1356240181
NM_001903.5(CTNNA1):c.1839T>A (p.Asp613Glu) rs1763786362
NM_001903.5(CTNNA1):c.2554C>T (p.Leu852Phe) rs1580945247
NM_001903.5(CTNNA1):c.377G>A (p.Arg126Gln) rs371054484
NM_001903.5(CTNNA1):c.495G>T (p.Arg165Ser) rs1758892317
NM_001903.5(CTNNA1):c.53T>C (p.Leu18Pro) rs769832131
NM_001903.5(CTNNA1):c.588+19G>T
NM_001903.5(CTNNA1):c.588+4_588+5del rs147724289
NM_001903.5(CTNNA1):c.793G>T (p.Asp265Tyr) rs1760467219

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