List of variants in gene PPP1CB reported as pathogenic for Noonan syndrome-like disorder with loose anagen hair 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	rs886037952
NM_002709.3(PPP1CB):c.166G>C (p.Ala56Pro)	rs1114167429
NM_002709.3(PPP1CB):c.548A>C (p.Glu183Ala)	rs886037954
NM_002709.3(PPP1CB):c.548A>T (p.Glu183Val)	rs886037954
NM_002709.3(PPP1CB):c.658C>T (p.Arg220Cys)	rs1553311527
NM_002709.3(PPP1CB):c.820G>A (p.Glu274Lys)	rs886037955

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