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

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_002709.3(PPP1CB):c.201A>G (p.Gln67=)	rs1128416	0.57257
NM_002709.3(PPP1CB):c.53-9G>A	rs368197884	0.00172
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.434T>A (p.Ile145Asn)	rs2148051984
NM_002709.3(PPP1CB):c.493G>A (p.Asp165Asn)
NM_002709.3(PPP1CB):c.493G>C (p.Asp165His)
NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys)
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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