List of variants in gene PLAA reported as uncertain significance for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001031689.3(PLAA):c.2264A>G (p.Asp755Gly)	rs78886918	0.00191
NM_001031689.3(PLAA):c.911C>G (p.Thr304Arg)	rs187160268	0.00062
NM_001031689.3(PLAA):c.1370G>C (p.Gly457Ala)	rs771430604	0.00001
NM_001031689.3(PLAA):c.340A>G (p.Thr114Ala)	rs779454318	0.00001
NM_001031689.3(PLAA):c.-16C>T	rs1825754982
NM_001031689.3(PLAA):c.1036C>A (p.Pro346Thr)
NM_001031689.3(PLAA):c.1068C>G (p.Ile356Met)	rs372992154
NM_001031689.3(PLAA):c.1496G>A (p.Arg499His)
NM_001031689.3(PLAA):c.1957_1958delinsAT (p.Pro653Ile)
NM_001031689.3(PLAA):c.215G>A (p.Cys72Tyr)
NM_001031689.3(PLAA):c.2323T>C (p.Tyr775His)	rs1824203390
NM_001031689.3(PLAA):c.481C>T (p.Pro161Ser)	rs778429815

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