ClinVar Miner

List of variants studied for obsolete skin/hair/eye pigmentation, variation in, 2 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_002386.4(MC1R):c.488G>A (p.Arg163Gln) rs885479 0.08396
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) rs1805005 0.08197
NM_002386.4(MC1R):c.586T>C (p.Phe196Leu) rs3212366 0.00938
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_002386.4(MC1R):c.466G>C (p.Val156Leu) rs3212365 0.00443
NM_002386.4(MC1R):c.537dup (p.Ile180fs) rs555179612 0.00067
NM_002386.4(MC1R):c.456C>A (p.Tyr152Ter) rs201326893 0.00056
NM_002386.4(MC1R):c.112G>A (p.Val38Met) rs200050206 0.00040
NM_002386.4(MC1R):c.200G>A (p.Arg67Gln) rs34090186 0.00024
NM_002386.4(MC1R):c.332C>T (p.Ala111Val) rs201489928 0.00021
NM_002386.4(MC1R):c.577G>A (p.Val193Met) rs527673999 0.00011
NM_002386.4(MC1R):c.803C>G (p.Pro268Arg) rs527697723 0.00010
NM_002386.4(MC1R):c.766C>T (p.Pro256Ser) rs200215218 0.00008
NM_002386.4(MC1R):c.104G>A (p.Cys35Tyr) rs779504604 0.00003
NM_002386.4(MC1R):c.219G>A (p.Met73Ile) rs755918287 0.00003
NM_002386.4(MC1R):c.217A>G (p.Met73Val) rs371458749 0.00002
NM_002386.4(MC1R):c.583T>G (p.Phe195Val) rs377580634 0.00002
NM_002386.4(MC1R):c.313G>A (p.Ala105Thr) rs1376244060 0.00001
NM_002386.4(MC1R):c.201del (p.Asn68fs)
NM_002386.4(MC1R):c.259G>C (p.Val87Leu)
NM_002386.4(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.4(MC1R):c.377G>C (p.Ser126Thr)
NM_002386.4(MC1R):c.506G>A (p.Trp169Ter)
NM_002386.4(MC1R):c.795C>G (p.Val265=) rs367998996

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