ClinVar Miner

List of variants studied for oculocutaneous albinism by OMIM

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_205850.3(SLC24A5):c.331= (p.Thr111=) rs1426654 0.70225
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000372.4(TYR):c.-199C>A rs1799989 0.16584
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter) rs104894130 0.00021
NM_001305581.2(LRMDA):c.150dup (p.Ala51fs) rs587776953 0.00020
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317 0.00011
NM_001305581.2(LRMDA):c.664C>T (p.Arg222Ter) rs587776952 0.00007
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_000550.3(TYRP1):c.1120C>T (p.Arg374Ter) rs121912778 0.00006
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro) rs121912619 0.00006
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424 0.00004
NM_001922.5(DCT):c.1407G>A (p.Trp469Ter) rs764655568 0.00004
NM_000372.5(TYR):c.533G>A (p.Trp178Ter) rs61754360 0.00003
NM_001922.5(DCT):c.118T>A (p.Cys40Ser) rs370729240 0.00003
NM_205850.3(SLC24A5):c.641del (p.Leu214fs) rs772398324 0.00003
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877 0.00002
NM_000372.5(TYR):c.646T>A (p.Leu216Met) rs61754363 0.00002
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) rs121918168 0.00001
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile) rs121918171 0.00001
NM_000275.3(OCA2):c.1842+1G>T rs387906240 0.00001
NM_000372.5(TYR):c.1112A>C (p.Asn371Thr) rs61754387 0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln) rs61754393 0.00001
NM_000372.5(TYR):c.1501dup (p.Arg501fs) rs281865328 0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879 0.00001
NM_000372.5(TYR):c.61C>T (p.Pro21Ser) rs61753178 0.00001
NM_000372.5(TYR):c.707G>A (p.Trp236Ter) rs61754367 0.00001
NM_016180.5(SLC45A2):c.1457C>T (p.Ala486Val) rs121912620 0.00001
NC_000015.10:g.28018399_28018559del rs1555375711
NG_009846.1:g.103171_225796del
NM_000275.3(OCA2):c.1960del (p.Ala654fs) rs387906241
NM_000372.5(TYR):c.1146C>A (p.Asn382Lys) rs104894315
NM_000372.5(TYR):c.1164del (p.His389fs) rs281865522
NM_000372.5(TYR):c.125A>G (p.Asp42Gly) rs28940878
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318
NM_000372.5(TYR):c.272G>A (p.Cys91Tyr) rs137854890
NM_000372.5(TYR):c.286dup (p.Met96fs) rs61753190
NM_000372.5(TYR):c.572del (p.Gly191fs) rs61754361
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer) rs61754368
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs) rs387906562
NM_000550.3(TYRP1):c.107del (p.Ala35_Leu36insTer) rs387906561
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_001922.5(DCT):c.1307_1320del (p.Phe435_Phe436insTer) rs1882493359
NM_001922.5(DCT):c.176G>T (p.Gly59Val) rs1885298359
NM_001922.5(DCT):c.183C>G (p.Cys61Trp) rs1885297366
NM_001922.5(DCT):c.876C>A (p.Tyr292Ter) rs201692579
NM_016180.5(SLC45A2):c.1121del (p.Leu374fs) rs730880271
NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn) rs121912621
NM_016180.5(SLC45A2):c.563-1G>A rs730880270
NM_016180.5(SLC45A2):c.656TCT[2] (p.Phe221del) rs387906318
NM_016180.5(SLC45A2):c.986del (p.Thr329fs) rs387906317
NM_205850.3(SLC24A5):c.1361dup (p.Leu454fs) rs886037644
NM_205850.3(SLC24A5):c.521G>A (p.Arg174Lys) rs1555452572
NM_205850.3(SLC24A5):c.571_572insTAAT (p.Tyr191fs) rs886037642
NM_205850.3(SLC24A5):c.591G>A (p.Trp197Ter) rs886037643
nsv1197574

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