ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
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.820G>A (p.Glu274Lys) rs886037955
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_206876.1(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952

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