ClinVar Miner

List of variants reported as uncertain significance for disorder of melanin metabolism by Baylor Genetics

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln) rs111722949 0.00135
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu) rs200511787 0.00020
NM_001382347.1(MYO5A):c.2477G>A (p.Arg826His) rs752461164 0.00012
NM_022081.6(HPS4):c.384+1G>A rs201334605 0.00006
NM_003664.5(AP3B1):c.3131+1G>A rs766116144 0.00001
NM_032122.5(DTNBP1):c.488+18G>A rs746234584 0.00001
NM_000081.4(LYST):c.1610C>T (p.Ala537Val)
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
NM_000081.4(LYST):c.4265C>T (p.Ala1422Val)
NM_000081.4(LYST):c.4529G>C (p.Ser1510Thr)
NM_000081.4(LYST):c.6422C>A (p.Ala2141Asp)
NM_000081.4(LYST):c.7327C>T (p.Leu2443Phe)
NM_000081.4(LYST):c.8657T>C (p.Ile2886Thr)
NM_000195.5(HPS1):c.1763T>C (p.Leu588Pro) rs1302271283
NM_000275.3(OCA2):c.515G>A (p.Arg172Lys) rs762091768
NM_012388.4(BLOC1S6):c.82+12C>T rs763484836
NM_024747.6(HPS6):c.1360A>G (p.Met454Val) rs769401035
NM_212550.5(BLOC1S3):c.505G>T (p.Ala169Ser) rs200799185

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