ClinVar Miner

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

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Total variants: 11
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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>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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