ClinVar Miner

List of variants in gene PDZD7 reported as benign by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001195263.2(PDZD7):c.2368A>G (p.Lys790Glu) rs111287837 0.07629
NM_001195263.2(PDZD7):c.2049G>A (p.Pro683=) rs34693310 0.06258
NM_001195263.2(PDZD7):c.2132A>G (p.His711Arg) rs34616847 0.03016
NM_001195263.2(PDZD7):c.936C>T (p.Asn312=) rs35038258 0.01480
NM_001195263.2(PDZD7):c.159G>C (p.Gly53=) rs78072468 0.00899
NM_001195263.2(PDZD7):c.1011C>T (p.Tyr337=) rs34705415 0.00775
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) rs112571971 0.00706

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