ClinVar Miner

List of variants studied for albinism by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP
NM_000081.3(LYST):c.1996A>G (p.Ser666Gly)
NM_000081.3(LYST):c.2963G>A (p.Arg988Gln)
NM_000081.3(LYST):c.3083C>G (p.Ser1028Cys) rs150636017
NM_000081.3(LYST):c.3311G>A (p.Arg1104Gln) rs148299757
NM_000081.3(LYST):c.4705A>C (p.Asn1569His)
NM_000081.3(LYST):c.8806G>A (p.Val2936Ile) rs2753327
NM_000275.3(OCA2):c.1239+5G>C rs757119713
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170
NM_000275.3(OCA2):c.1503+5G>A rs368124046
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) rs776814755
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.1366+4A>G rs61754398
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797
NM_001171.5(ABCC6):c.1424A>T (p.His475Leu) rs151187637
NM_001171.5(ABCC6):c.1553G>A (p.Arg518Gln) rs72653772
NM_001171.5(ABCC6):c.2787+1G>T rs72664209
NM_001171.5(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701
NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706
NM_001171.5(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856
NM_002386.3(MC1R):c.104G>A (p.Cys35Tyr) rs779504604
NM_002386.3(MC1R):c.112G>A (p.Val38Met) rs200050206
NM_002386.3(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.3(MC1R):c.332C>T (p.Ala111Val) rs201489928
NM_002386.3(MC1R):c.583T>G (p.Phe195Val) rs377580634
NM_002386.3(MC1R):c.766C>T (p.Pro256Ser) rs200215218
NM_003664.4(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996
NM_003664.4(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178
NM_003664.4(AP3B1):c.869C>T (p.Pro290Leu) rs759296897
NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu) rs769448704
NM_181507.1(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184

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