ClinVar Miner

Variants in gene ALDH3A2 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 25
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HGVS dbSNP gnomAD frequency
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561 0.00006
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562 0.00003
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571 0.00003
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu) rs72547573 0.00002
NM_000382.3(ALDH3A2):c.1443+1G>A rs199548781 0.00002
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys) rs72547566 0.00002
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568 0.00002
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) rs72547575 0.00001
NM_000382.3(ALDH3A2):c.191T>A (p.Val64Asp) rs72547556 0.00001
NM_000382.3(ALDH3A2):c.554G>A (p.Gly185Glu) rs72547563 0.00001
NM_000382.3(ALDH3A2):c.798+1_798+6del rs1057517352 0.00001
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs) rs387906257
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs) rs767751416
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter) rs72547554
NM_000382.3(ALDH3A2):c.471+1del rs786204741
NM_000382.3(ALDH3A2):c.472-2A>G
NM_000382.3(ALDH3A2):c.551C>G (p.Thr184Arg)
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr) rs72547567
NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter) rs1555533754
NM_000382.3(ALDH3A2):c.798+5G>A
NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn) rs72547569
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)
NM_000382.3(ALDH3A2):c.946del (p.Thr316fs)
NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer) rs779956047

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