ClinVar Miner

Variants in gene ABAT with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_020686.6(ABAT):c.1186A>G (p.Ile396Val) rs150914629 0.00116
NM_020686.6(ABAT):c.1158G>A (p.Pro386=) rs374865268 0.00009
NM_020686.6(ABAT):c.26G>A (p.Arg9His) rs531783337 0.00009
NM_020686.6(ABAT):c.864C>T (p.Ala288=) rs149855547 0.00007
NM_020686.6(ABAT):c.816+19G>A rs147226856 0.00006
NM_020686.6(ABAT):c.555G>A (p.Gly185=) rs147765799 0.00004
NM_020686.6(ABAT):c.1123-15C>T rs376574278 0.00003
NM_020686.6(ABAT):c.168+13C>T rs759610129 0.00003
NM_020686.6(ABAT):c.708C>T (p.Ile236=) rs778110660 0.00003
NM_020686.6(ABAT):c.1431G>A (p.Thr477=) rs573157071 0.00001
NM_020686.6(ABAT):c.285T>C (p.Asp95=) rs917180192 0.00001
NM_020686.6(ABAT):c.387C>T (p.Pro129=) rs759203240 0.00001
NM_020686.6(ABAT):c.978C>T (p.Asp326=) rs201727625 0.00001
NM_020686.6(ABAT):c.1123-14G>A rs758870080
NM_020686.6(ABAT):c.1140C>T (p.Asn380=) rs770156912
NM_020686.6(ABAT):c.1389G>A (p.Val463=) rs2060432508
NM_020686.6(ABAT):c.317-5C>G rs781499078
NM_020686.6(ABAT):c.540+14CA[14] rs35745596
NM_020686.6(ABAT):c.645C>A (p.Gly215=) rs1139522
NM_020686.6(ABAT):c.667+7_667+8dup rs748783252

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