List of variants in gene PLEKHG5 reported as likely pathogenic for autosomal recessive disease

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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: 18

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HGVS	dbSNP	gnomAD frequency
NM_020631.6(PLEKHG5):c.440-2A>G	rs144750655	0.00026
NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter)	rs772217003	0.00003
NM_020631.6(PLEKHG5):c.1132-2A>C	rs1557742277	0.00001
NM_001042663.3(PLEKHG5):c.22_23insGGCC (p.Lys8fs)	rs2148627334
NM_020631.6(PLEKHG5):c.1132-1G>T	rs2148585199
NM_020631.6(PLEKHG5):c.1393-2A>C
NM_020631.6(PLEKHG5):c.1438A>C (p.Met480Leu)	rs1441260635
NM_020631.6(PLEKHG5):c.1542+1G>C
NM_020631.6(PLEKHG5):c.1543-2A>G
NM_020631.6(PLEKHG5):c.1680+1G>T
NM_020631.6(PLEKHG5):c.1801-2A>G
NM_020631.6(PLEKHG5):c.1933+1del
NM_020631.6(PLEKHG5):c.1934-2A>C
NM_020631.6(PLEKHG5):c.2249+1G>A
NM_020631.6(PLEKHG5):c.2250-2A>C
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs)	rs753593088
NM_020631.6(PLEKHG5):c.2503_2510del (p.Pro835fs)
NM_020631.6(PLEKHG5):c.985-2A>G	rs1553174566

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