ClinVar Miner

List of variants reported as benign for disorder of melanin metabolism by Genome-Nilou Lab

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.2887+81G>A rs2681096 0.98243
NM_016180.5(SLC45A2):c.987A>G (p.Thr329=) rs2287949 0.95123
NM_001382347.1(MYO5A):c.1543-13T>C rs1724623 0.92882
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373 0.91917
NM_001382347.1(MYO5A):c.1086A>C (p.Glu362Asp) rs1724577 0.91068
NM_001382347.1(MYO5A):c.2012+27A>G rs4774621 0.87830
NM_001382347.1(MYO5A):c.2526C>T (p.Ile842=) rs2414145 0.87556
NM_022081.6(HPS4):c.1816C>T (p.His606Tyr) rs1894706 0.86290
NM_022081.6(HPS4):c.1875G>T (p.Gln625His) rs1894704 0.86250
NM_022081.6(HPS4):c.706+39G>T rs739289 0.83516
NM_022081.6(HPS4):c.707-28T>C rs3213583 0.83408
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly) rs713998 0.81679
NM_022081.6(HPS4):c.1654G>A (p.Val552Met) rs5752330 0.81665
NM_000275.3(OCA2):c.2244+25C>G rs7175046 0.78077
NM_181507.2(HPS5):c.822C>A (p.Leu274=) rs1140047 0.72384
NM_000275.3(OCA2):c.1183-4A>G rs10852218 0.71746
NM_032383.5(HPS3):c.1692-192T>G rs772903 0.70831
NM_032383.5(HPS3):c.1164-139A>C rs2254913 0.69958
NM_000195.5(HPS1):c.768+64A>G rs2296431 0.67902
NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) rs16891982 0.67617
NM_000275.3(OCA2):c.1785-47A>G rs7170989 0.60954
NM_000275.3(OCA2):c.1065G>A (p.Ala355=) rs1800404 0.59023
NM_181507.2(HPS5):c.1511-30G>A rs2305565 0.58312
NM_000275.3(OCA2):c.1551C>T (p.Cys517=) rs1800411 0.54427
NM_000195.5(HPS1):c.937+192T>C rs1061135 0.53604
NM_000275.3(OCA2):c.1365-15C>T rs12910433 0.51222
NM_000550.3(TYRP1):c.1409-18dup rs147565972 0.51109
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589 0.50726
NM_000275.3(OCA2):c.2328T>C (p.Ala776=) rs1800419 0.47440
NM_032383.5(HPS3):c.2796+50C>T rs2681092 0.46501
NM_024101.7(MLPH):c.1221A>G (p.Glu407=) rs2271809 0.44998
NM_032383.5(HPS3):c.2107-57A>G rs61615092 0.44604
NM_001305581.2(LRMDA):c.364T>C (p.Leu122=) rs1898071 0.42882
NM_001305581.2(LRMDA):c.516+53C>T rs7924288 0.40010
NM_001305581.2(LRMDA):c.398+31A>C rs1898070 0.37753
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val) rs2014410 0.35365
NM_000195.5(HPS1):c.118-54A>T rs2296430 0.33514
NM_024101.7(MLPH):c.1121T>C (p.Val374Ala) rs3817362 0.33210
NM_024101.7(MLPH):c.333-21A>G rs2292879 0.33192
NM_032383.5(HPS3):c.1163+62T>G rs11715291 0.28038
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908 0.28006
NM_183235.3(RAB27A):c.*14C>T rs1050931 0.27464
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287 0.25851
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000195.5(HPS1):c.1599-15A>G rs2296435 0.21496
NM_000195.5(HPS1):c.1397+7G>C rs2296432 0.20947
NM_000195.5(HPS1):c.1397+8G>T rs2296433 0.20935
NM_000275.3(OCA2):c.2364G>A (p.Ser788=) rs12592307 0.19938
NM_032383.5(HPS3):c.2107-52A>G rs57943258 0.17569
NM_032383.5(HPS3):c.1164-25C>T rs2689232 0.17519
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557 0.15600
NM_001382347.1(MYO5A):c.3736C>T (p.Arg1246Cys) rs1058219 0.14826
NM_001382347.1(MYO5A):c.613-26A>G rs72623980 0.14538
NM_000195.5(HPS1):c.937+88C>T rs34533614 0.13757
NM_212550.5(BLOC1S3):c.270G>A (p.Ala90=) rs758506 0.13313
NM_000195.5(HPS1):c.399-35G>A rs11591594 0.12488
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436 0.09989
NM_000195.5(HPS1):c.1335+48G>A rs41317034 0.09953
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401 0.07659
NM_000195.5(HPS1):c.297C>T (p.Thr99=) rs11539873 0.04930
NM_001382347.1(MYO5A):c.456-4A>G rs61363656 0.04815
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730 0.03245
NM_032383.5(HPS3):c.970+7A>G rs114029765 0.02580
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00297
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000273.3(GPR143):c.767+10C>G rs3788938
NM_000550.3(TYRP1):c.1261+20C>T rs2733832
NM_001382347.1(MYO5A):c.3858+12dup rs11386962
NM_003664.5(AP3B1):c.280-6dup rs5868908

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