List of variants in gene PDZD7 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001195263.2(PDZD7):c.1113del (p.Thr372fs)	rs1280689930	0.00001
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg)	rs753034799	0.00001
NM_001195263.2(PDZD7):c.928+1G>A	rs778565403	0.00001
NM_001195263.2(PDZD7):c.929-2A>G	rs1195820653	0.00001
NM_001195263.2(PDZD7):c.1420_1522+812delinsA
NM_001195263.2(PDZD7):c.1749+2T>G
NM_001195263.2(PDZD7):c.2006-1G>A	rs1207503394
NM_001195263.2(PDZD7):c.2006-2A>G	rs1852373110
NM_001195263.2(PDZD7):c.2185del (p.Arg729fs)	rs1590045340
NM_001195263.2(PDZD7):c.2618-6_2619del	rs2133994584
NM_001195263.2(PDZD7):c.2692dup (p.Ala898fs)	rs1177831852
NM_001195263.2(PDZD7):c.2796_2798del (p.Arg933del)	rs770336804
NM_001195263.2(PDZD7):c.2850del (p.Ser953fs)	rs1025144704
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp)	rs200664140
NM_001195263.2(PDZD7):c.649del (p.Ser217fs)	rs756992205
NM_001195263.2(PDZD7):c.993C>A (p.Cys331Ter)	rs1468599549

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