ClinVar Miner

List of variants in gene YWHAG reported as likely pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_012479.4(YWHAG):c.170G>A (p.Arg57His) rs2115589045
NM_012479.4(YWHAG):c.387C>G (p.Asp129Glu) rs1554616630
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser) rs1554616627
NM_012479.4(YWHAG):c.578C>T (p.Ala193Val)
NM_012479.4(YWHAG):c.628_642del (p.Thr210_Asp214del)
NM_012479.4(YWHAG):c.683A>T (p.Asp228Val) rs1803513587

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