ClinVar Miner

List of variants in gene PDZD7 reported as benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001195263.2(PDZD7):c.2319T>C (p.Arg773=) rs807022 0.81877
NM_001195263.2(PDZD7):c.2564A>C (p.Asn855Thr) rs807023 0.81454
NM_001195263.2(PDZD7):c.367+7A>G rs6584410 0.64290
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.3092G>A (p.Arg1031His) rs72838683 0.03743
NM_001195263.2(PDZD7):c.2132A>G (p.His711Arg) rs34616847 0.03016
NM_001195263.2(PDZD7):c.2157C>T (p.Asp719=) rs77081173 0.01489
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.2144C>T (p.Pro715Leu) rs143414291 0.00754
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=) rs144469613 0.00650
NM_001195263.2(PDZD7):c.1447G>A (p.Asp483Asn) rs76941691 0.00426
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu) rs118098246 0.00348
NM_001195263.2(PDZD7):c.2943T>C (p.Asp981=) rs569520095 0.00181
NM_001195263.2(PDZD7):c.2231G>A (p.Arg744Gln) rs547610251 0.00007
NM_001195263.2(PDZD7):c.2230C>A (p.Arg744=) rs565952913 0.00001
NM_001195263.2(PDZD7):c.2335CGCAGC[4] (p.773RS[7]) rs200896335

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