ClinVar Miner

List of variants in gene PDZD7 reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 76
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001195263.2(PDZD7):c.2006-313T>G rs807021 0.83795
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.1749+188A>G rs701837 0.66021
NM_001195263.2(PDZD7):c.928+63C>A rs7075685 0.64301
NM_001195263.2(PDZD7):c.367+7A>G rs6584410 0.64290
NM_001195263.2(PDZD7):c.1522+395A>G rs10786615 0.62464
NM_001195263.2(PDZD7):c.1522+88G>C rs11190793 0.62414
NM_001195263.2(PDZD7):c.-165-311A>G rs4919512 0.51326
NM_001195263.2(PDZD7):c.1749+43del rs34125357 0.40205
NM_001195263.2(PDZD7):c.2617+319T>C rs12784542 0.39835
NM_001195263.2(PDZD7):c.1522+260_1522+265del rs148417050 0.35507
NM_001195263.2(PDZD7):c.928+110C>T rs7075659 0.31040
NM_001195263.2(PDZD7):c.868-203T>G rs1998249 0.30780
NM_001195263.2(PDZD7):c.1523-214G>C rs7090429 0.29677
NM_001195263.2(PDZD7):c.1934-55C>T rs807020 0.28374
NM_001195263.2(PDZD7):c.227-130A>G rs11190797 0.22293
NM_001195263.2(PDZD7):c.542+48C>G rs3740496 0.20587
NM_001195263.2(PDZD7):c.2368A>G (p.Lys790Glu) rs111287837 0.07629
NM_001195263.2(PDZD7):c.1574-148C>T rs10883570 0.07555
NM_001195263.2(PDZD7):c.543-167T>G rs12265408 0.07539
NM_001195263.2(PDZD7):c.1750-196T>C rs11595628 0.07100
NM_001195263.2(PDZD7):c.1750-241C>T rs11591425 0.06836
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.2005+244A>G rs77802680 0.03712
NM_001195263.2(PDZD7):c.-86A>G rs117794010 0.03300
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.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.2719-9C>A rs184247824 0.00189
NM_001195263.2(PDZD7):c.2943T>C (p.Asp981=) rs569520095 0.00181
NM_001195263.2(PDZD7):c.2538G>C (p.Gly846=) rs111750275 0.00173
NM_001195263.2(PDZD7):c.324C>T (p.Gly108=) rs147133210 0.00115
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.1579G>A (p.Glu527Lys) rs773904973 0.00039
NM_001195263.2(PDZD7):c.1942C>T (p.Pro648Ser) rs201727136 0.00039
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.2231G>A (p.Arg744Gln) rs547610251 0.00007
NM_001195263.2(PDZD7):c.1916C>G (p.Ala639Gly) rs528139723 0.00004
NM_001195263.2(PDZD7):c.2230C>A (p.Arg744=) rs565952913 0.00001
NM_001195263.2(PDZD7):c.1324+11del rs767650733
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del) rs555444131
NM_001195263.2(PDZD7):c.1522+187C>A rs191331869
NM_001195263.2(PDZD7):c.1522+207_1522+219del rs1564632504
NM_001195263.2(PDZD7):c.1522+207_1522+223del rs879632019
NM_001195263.2(PDZD7):c.1522+207del rs66819144
NM_001195263.2(PDZD7):c.1522+228dup rs368025079
NM_001195263.2(PDZD7):c.1522+260CCTT[2] rs202036244
NM_001195263.2(PDZD7):c.1522+301dup rs370482213
NM_001195263.2(PDZD7):c.1522+452T>G
NM_001195263.2(PDZD7):c.1522+704del rs61058141
NM_001195263.2(PDZD7):c.1749+144CA[11] rs10579208
NM_001195263.2(PDZD7):c.1749+144CA[12] rs10579208
NM_001195263.2(PDZD7):c.1750-268T>G rs11190790
NM_001195263.2(PDZD7):c.1752T>C (p.Tyr584=) rs368563439
NM_001195263.2(PDZD7):c.1933+14G>C rs1852406678
NM_001195263.2(PDZD7):c.2006-179ATAA[4] rs10637176
NM_001195263.2(PDZD7):c.2006-38_2006-37insGAGGTGGTCCAGTCTGG rs71305551
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.543-14del rs745476626
NM_001195263.2(PDZD7):c.543-212del rs1315085387
NM_001195263.2(PDZD7):c.928+20del rs77484072

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.