ClinVar Miner

Variants in gene SPATA7 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: 6
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HGVS dbSNP gnomAD frequency
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln) rs34682727 0.00218
NM_018418.5(SPATA7):c.1216-4C>T rs755958987 0.00007
NM_018418.5(SPATA7):c.1446C>T (p.Asn482=) rs766017194 0.00005
NM_018418.5(SPATA7):c.372+11A>G rs757636745 0.00001
NM_018418.5(SPATA7):c.57G>A (p.Pro19=) rs367830780
NM_018418.5(SPATA7):c.57G>T (p.Pro19=) rs367830780

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