ClinVar Miner

List of variants studied for macrocephaly, dysmorphic facies, and psychomotor retardation by 3billion

Included ClinVar conditions (1):

Macrocephaly, dysmorphic facies, and psychomotor retardation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003922.4(HERC1):c.10925T>C (p.Met3642Thr)
NM_003922.4(HERC1):c.11407G>A (p.Val3803Ile)	rs1025829736
NM_003922.4(HERC1):c.3953C>G (p.Thr1318Arg)
NM_003922.4(HERC1):c.4643T>C (p.Met1548Thr)

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