List of variants studied for Noonan syndrome-like disorder with loose anagen hair by Fulgent Genetics, Fulgent Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_007373.4(SHOC2):c.1423-7C>T	rs180671383	0.00563
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly)	rs145463534	0.00423
NM_002709.3(PPP1CB):c.53-9G>A	rs368197884	0.00172
NM_007373.4(SHOC2):c.355A>G (p.Ile119Val)	rs147068827	0.00009
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg)	rs397517231	0.00004
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala)	rs730881018	0.00002
NM_007373.4(SHOC2):c.1660A>G (p.Ser554Gly)	rs771053632	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_007373.4(SHOC2):c.619G>A (p.Val207Met)	rs998435032	0.00001
NM_007373.4(SHOC2):c.1555C>G (p.Leu519Val)	rs2134182984
NM_007373.4(SHOC2):c.514C>T (p.Arg172Trp)	rs1057517872

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