ClinVar Miner

List of variants in gene PDZD7 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001195263.2(PDZD7):c.2618-290A>C rs12780745 0.03296
NM_001195263.2(PDZD7):c.719+52G>T rs73349171 0.00974
NM_001195263.2(PDZD7):c.367+51del rs376572985 0.00972
NM_001195263.2(PDZD7):c.1933+46G>C rs142872752 0.00956
NM_001195263.2(PDZD7):c.929-281G>A rs148431602 0.00940
NM_001195263.2(PDZD7):c.1750-110C>G rs115310716 0.00697
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=) rs144469613 0.00650
NM_001195263.2(PDZD7):c.1522+547G>A rs111916601 0.00433
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu) rs118098246 0.00348
NM_001195263.2(PDZD7):c.168C>G (p.Arg56=) rs143731734 0.00251
NM_001195263.2(PDZD7):c.368-20A>G rs180764355 0.00241
NM_001195263.2(PDZD7):c.1905G>A (p.Glu635=) rs546907305 0.00204
NM_001195263.2(PDZD7):c.1934-24T>C rs184675540 0.00189
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.2617+25G>A rs147777665 0.00134
NM_001195263.2(PDZD7):c.1136G>A (p.Arg379Gln) rs199608117 0.00131
NM_001195263.2(PDZD7):c.324C>T (p.Gly108=) rs147133210 0.00115
NM_001195263.2(PDZD7):c.*44G>A rs150768091 0.00097
NM_001195263.2(PDZD7):c.786C>T (p.Asn262=) rs148746572 0.00084
NM_001195263.2(PDZD7):c.156C>T (p.Asn52=) rs150917752 0.00061
NM_001195263.2(PDZD7):c.1942C>T (p.Pro648Ser) rs201727136 0.00039
NM_001195263.2(PDZD7):c.1629G>A (p.Gln543=) rs192668758 0.00029
NM_001195263.2(PDZD7):c.2253G>A (p.Leu751=) rs776885998 0.00023
NM_001195263.2(PDZD7):c.2331T>C (p.Arg777=) rs564150396 0.00016
NM_001195263.2(PDZD7):c.3078C>T (p.Pro1026=) rs534463809 0.00015
NM_001195263.2(PDZD7):c.1653T>G (p.Val551=) rs773008252 0.00014
NM_001195263.2(PDZD7):c.2745C>T (p.Asp915=) rs892434373 0.00006
NM_001195263.2(PDZD7):c.2772C>T (p.His924=) rs745512974 0.00006
NM_001195263.2(PDZD7):c.1916C>G (p.Ala639Gly) rs528139723 0.00004
NM_001195263.2(PDZD7):c.929-13C>T rs1052950462 0.00002
NM_001195263.2(PDZD7):c.1575C>T (p.Asp525=) rs761231526 0.00001
NM_001195263.2(PDZD7):c.2230C>A (p.Arg744=) rs565952913 0.00001
NM_001195263.2(PDZD7):c.1032G>T (p.Ser344=) rs748001519
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del) rs555444131
NM_001195263.2(PDZD7):c.1522+186_1522+211del rs1229218697
NM_001195263.2(PDZD7):c.1522+186_1522+215del rs1370354382
NM_001195263.2(PDZD7):c.1522+186_1522+219del rs1294487477
NM_001195263.2(PDZD7):c.1522+186_1522+223del rs1454906725
NM_001195263.2(PDZD7):c.1522+186_1522+227del rs879558782
NM_001195263.2(PDZD7):c.1522+207_1522+211del rs746109316
NM_001195263.2(PDZD7):c.1522+207_1522+215del rs757879415
NM_001195263.2(PDZD7):c.1522+224dup rs1491214800
NM_001195263.2(PDZD7):c.1522+232dup rs757151762
NM_001195263.2(PDZD7):c.1522+260CCTT[3] rs202036244
NM_001195263.2(PDZD7):c.2006-178_2006-177insAATG rs763493578
NM_001195263.2(PDZD7):c.2335CGCAGC[1] (p.773RS[4]) rs200896335
NM_001195263.2(PDZD7):c.2335CGCAGC[2] (p.773RS[5]) rs200896335

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