ClinVar Miner

List of variants in gene ABCA12 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.1765C>A (p.Pro589Thr) rs148979792 0.00710
NM_173076.3(ABCA12):c.4225A>G (p.Ile1409Val) rs149610963 0.00560
NM_173076.3(ABCA12):c.5361C>T (p.Ser1787=) rs147656220 0.00267
NM_173076.3(ABCA12):c.2868T>G (p.Val956=) rs141615275 0.00154
NM_173076.3(ABCA12):c.485C>T (p.Ala162Val) rs149399707 0.00126
NM_173076.3(ABCA12):c.1141G>C (p.Val381Leu) rs143513000 0.00105
NM_173076.3(ABCA12):c.3481A>T (p.Met1161Leu) rs141077206 0.00092
NM_173076.3(ABCA12):c.1062-8T>A rs190613499 0.00082
NM_173076.3(ABCA12):c.1296A>G (p.Gln432=) rs149243979 0.00045
NM_173076.3(ABCA12):c.1222T>C (p.Ser408Pro) rs189141015 0.00022
NM_173076.3(ABCA12):c.5143A>C (p.Arg1715=) rs749849028 0.00011
NM_173076.3(ABCA12):c.2638G>C (p.Val880Leu) rs146002078
NM_173076.3(ABCA12):c.2811T>C (p.Asp937=)
NM_173076.3(ABCA12):c.2825_2826del (p.Glu942fs) rs757141816
NM_173076.3(ABCA12):c.2833dup (p.Arg945fs) rs1700146530
NM_173076.3(ABCA12):c.3699T>G (p.Leu1233=)
NM_173076.3(ABCA12):c.3837C>T (p.Tyr1279=)
NM_173076.3(ABCA12):c.5127T>C (p.Asp1709=)

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