ClinVar Miner

List of variants in gene ABCA7 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_019112.4(ABCA7):c.4795G>A (p.Val1599Met) rs117187003 0.00376
NM_019112.4(ABCA7):c.2358C>T (p.Cys786=) rs9282560 0.00328
NM_019112.4(ABCA7):c.5037G>A (p.Glu1679=) rs115536223 0.00271
NM_019112.4(ABCA7):c.1621G>A (p.Val541Met) rs150419414 0.00229
NM_019112.4(ABCA7):c.5570+5G>C rs200538373 0.00203
NM_019112.4(ABCA7):c.3727-6C>T rs189260652 0.00118
NM_019112.4(ABCA7):c.2639G>A (p.Arg880Gln) rs143718918 0.00079
NM_019112.4(ABCA7):c.4208del (p.Leu1403fs) rs538591288 0.00076
NM_019112.4(ABCA7):c.4189C>T (p.Arg1397Cys) rs145667385 0.00026
NM_019112.4(ABCA7):c.5963G>T (p.Cys1988Phe) rs142573667 0.00008
NM_019112.4(ABCA7):c.3711C>T (p.Arg1237=) rs535290674 0.00005
NM_019112.4(ABCA7):c.1048C>T (p.Arg350Trp) rs771187987 0.00004
NM_019112.4(ABCA7):c.5069T>C (p.Ile1690Thr) rs184218896 0.00004
NM_019112.3(ABCA7):c.2126_2132del (p.Glu709fs) rs547447016
NM_019112.4(ABCA7):c.1438A>C (p.Arg480=)
NM_019112.4(ABCA7):c.1575C>T (p.Ala525=)
NM_019112.4(ABCA7):c.1712G>C (p.Arg571Pro)
NM_019112.4(ABCA7):c.2451T>C (p.Pro817=) rs2144771706
NM_019112.4(ABCA7):c.27G>A (p.Leu9=)
NM_019112.4(ABCA7):c.3210C>T (p.Gly1070=)
NM_019112.4(ABCA7):c.3317C>T (p.Thr1106Met)
NM_019112.4(ABCA7):c.3621C>T (p.Ala1207=)
NM_019112.4(ABCA7):c.4168T>C (p.Phe1390Leu)
NM_019112.4(ABCA7):c.4416+2T>G
NM_019112.4(ABCA7):c.4680G>A (p.Glu1560=)
NM_019112.4(ABCA7):c.6315G>T (p.Gly2105=)
NM_019112.4(ABCA7):c.6419G>C (p.Ser2140Thr)
NM_019112.4(ABCA7):c.954C>T (p.Leu318=)

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