ClinVar Miner

eye pigmentation, variation in, 2 by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (4):

Skin/hair/eye pigmentation 2, blond hair/fair skin
Skin/hair/eye pigmentation 2, red hair/fair skin
Skin/hair/eye pigmentation, variation in, 2
Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 2; Increased analgesia from kappa-opioid receptor agonist, female-specific; Melanoma, cutaneous malignant, susceptibility to, 5

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002386.4(MC1R):c.840del (p.Phe280fs)	rs2045705764
NM_002386.4(MC1R):c.908delinsTCC (p.Gln303fs)

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