ClinVar Miner

List of variants in gene PDZD7 studied for not specified

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Total variants: 53
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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.1613G>A (p.Gly538Glu) rs112571971 0.00706
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.1905G>A (p.Glu635=) rs546907305 0.00204
NM_001195263.2(PDZD7):c.2943T>C (p.Asp981=) rs569520095 0.00181
NM_001195263.2(PDZD7):c.2411C>T (p.Ala804Val) rs397516635 0.00180
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn) rs200592310 0.00176
NM_001195263.2(PDZD7):c.2538G>C (p.Gly846=) rs111750275 0.00173
NM_001195263.2(PDZD7):c.370C>T (p.Arg124Trp) rs114917863 0.00137
NM_001195263.2(PDZD7):c.2357G>A (p.Arg786Gln) rs113570783 0.00098
NM_001195263.2(PDZD7):c.156C>T (p.Asn52=) rs150917752 0.00061
NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu) rs141181035 0.00038
NM_001195263.2(PDZD7):c.1629G>A (p.Gln543=) rs192668758 0.00029
NM_001195263.2(PDZD7):c.1171A>G (p.Ile391Val) rs767734855 0.00027
NM_001195263.2(PDZD7):c.3078C>T (p.Pro1026=) rs534463809 0.00015
NM_001195263.2(PDZD7):c.1672C>T (p.Arg558Trp) rs549755324 0.00011
NM_001195263.2(PDZD7):c.874G>A (p.Gly292Ser) rs765091855 0.00011
NM_001195263.2(PDZD7):c.2231G>A (p.Arg744Gln) rs547610251 0.00007
NM_001195263.2(PDZD7):c.1485C>A (p.Ser495Arg) rs766182369 0.00006
NM_001195263.2(PDZD7):c.306C>T (p.Arg102=) rs141305163 0.00005
NM_001195263.2(PDZD7):c.562C>A (p.Arg188Ser) rs368583838 0.00005
NM_001195263.2(PDZD7):c.2011C>A (p.Arg671Ser) rs925832623 0.00003
NM_001195263.2(PDZD7):c.2639T>C (p.Ile880Thr) rs202192219 0.00003
NM_001195263.2(PDZD7):c.1538C>T (p.Pro513Leu) rs572462059 0.00002
NM_001195263.2(PDZD7):c.2230C>A (p.Arg744=) rs565952913 0.00001
NM_001195263.2(PDZD7):c.685G>A (p.Gly229Ser) rs765376342 0.00001
NM_001195263.2(PDZD7):c.1115C>A (p.Thr372Lys) rs377765391
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del) rs555444131
NM_001195263.2(PDZD7):c.1402A>G (p.Met468Val) rs1392510268
NM_001195263.2(PDZD7):c.1525G>C (p.Gly509Arg) rs1590053918
NM_001195263.2(PDZD7):c.1752T>C (p.Tyr584=) rs368563439
NM_001195263.2(PDZD7):c.1841G>C (p.Arg614Thr) rs773503851
NM_001195263.2(PDZD7):c.2319TAGCCGCAGCCG[1] (p.773RS[4]) rs762000985
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) rs397516634
NM_001195263.2(PDZD7):c.2331_2348del (p.773_774RS[3]) rs727503369
NM_001195263.2(PDZD7):c.2335CGCAGC[4] (p.773RS[7]) rs200896335
NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del) rs397516636
NM_001195263.2(PDZD7):c.419G>A (p.Ser140Asn) rs1590069215
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp) rs200664140
NM_001195263.2(PDZD7):c.928+20del rs77484072

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