ClinVar Miner

Variants in gene ABCA12 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.2329T>A (p.Ser777Thr) rs7560008 0.99785
NM_173076.3(ABCA12):c.5617G>A (p.Val1873Ile) rs114258385 0.00759
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.2033A>G (p.Asn678Ser) rs147218173 0.00138
NM_173076.3(ABCA12):c.485C>T (p.Ala162Val) rs149399707 0.00126
NM_173076.3(ABCA12):c.1743C>G (p.Asp581Glu) rs144534912 0.00104
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.3276A>G (p.Lys1092=) rs150510675 0.00033
NM_173076.3(ABCA12):c.1222T>C (p.Ser408Pro) rs189141015 0.00022
NM_173076.3(ABCA12):c.4707C>T (p.Gly1569=) rs202141656 0.00020
NM_173076.3(ABCA12):c.3977-4C>T rs140122864 0.00003
NM_173076.3(ABCA12):c.4614C>T (p.Asp1538=) rs540623115 0.00003
NM_173076.3(ABCA12):c.1462C>T (p.Leu488=) rs574023538
NM_173076.3(ABCA12):c.2139C>T (p.Asn713=)
NM_173076.3(ABCA12):c.4065T>C (p.Tyr1355=)
NM_173076.3(ABCA12):c.4689C>T (p.Tyr1563=)

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