List of variants in gene PRUNE1 reported as pathogenic for Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_021222.3(PRUNE1):c.196C>T (p.Arg66Ter)	rs137929776	0.00003
NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln)	rs767769359	0.00003
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn)	rs773618224	0.00001
NM_021222.3(PRUNE1):c.520G>T (p.Gly174Ter)	rs200618384	0.00001
GRCh38/hg38 1q21.3(chr1:151017715-151018767)x0
NM_021222.3(PRUNE1):c.132+2T>C	rs1674200670
NM_021222.3(PRUNE1):c.160C>A (p.Pro54Thr)	rs1085308033
NM_021222.3(PRUNE1):c.446del (p.Ala149fs)
NM_021222.3(PRUNE1):c.50dup (p.Leu18fs)
NM_021222.3(PRUNE1):c.515T>C (p.Leu172Pro)
NM_021222.3(PRUNE1):c.521-2A>G	rs886039608
NM_021222.3(PRUNE1):c.540T>A (p.Cys180Ter)
NM_021222.3(PRUNE1):c.762T>A (p.Tyr254Ter)
NM_021222.3(PRUNE1):c.889C>T (p.Arg297Trp)	rs752599948
NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn)	rs1057521927

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