ClinVar Miner

List of variants in gene PDZD7 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 23
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HGVS dbSNP gnomAD frequency
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.572T>A (p.Val191Glu) rs118098246 0.00348
NM_001195263.2(PDZD7):c.2943T>C (p.Asp981=) rs569520095 0.00181
NM_001195263.2(PDZD7):c.1653T>G (p.Val551=) rs773008252 0.00014
NM_001195263.2(PDZD7):c.2013C>T (p.Arg671=) rs978580047 0.00007
NM_001195263.2(PDZD7):c.1832A>G (p.Gln611Arg) rs1006592882 0.00003
NM_001195263.2(PDZD7):c.2652G>A (p.Val884=) rs754174021 0.00003
NM_001195263.2(PDZD7):c.2299C>T (p.Arg767Trp) rs562444438 0.00001
NM_001195263.2(PDZD7):c.559C>T (p.Arg187Trp) rs559297316 0.00001
NM_001195263.2(PDZD7):c.937G>A (p.Gly313Arg) rs1234735246 0.00001
NM_001195263.2(PDZD7):c.1337del (p.Gln446fs) rs1852828620
NM_001195263.2(PDZD7):c.1522+311_1522+312dup
NM_001195263.2(PDZD7):c.1522+452T>G
NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter) rs1554834161
NM_001195263.2(PDZD7):c.1841+2T>A
NM_001195263.2(PDZD7):c.1977C>G (p.Pro659=) rs1378481372
NM_001195263.2(PDZD7):c.2006-2A>G rs1852373110
NM_001195263.2(PDZD7):c.224A>T (p.Glu75Val) rs1554837854
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) rs397516634
NM_001195263.2(PDZD7):c.293G>T (p.Gly98Val) rs1399742524
NM_001195263.2(PDZD7):c.926G>A (p.Arg309Gln) rs528381893

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