List of variants in gene PLCH1 studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_014996.4(PLCH1):c.2101C>T (p.Arg701Ter)	rs757653002	0.00001
NM_014996.4(PLCH1):c.3211del (p.Cys1071fs)	rs2108014903

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