ClinVar Miner

List of variants reported as not provided by Department of Molecular Biophysics, University of Lodz

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Total variants: 13
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HGVS dbSNP
NM_002386.3(MC1R):c.575T>C (p.Leu192Pro) rs587783375
NM_002386.3(MC1R):c.793G>A (p.Val265Ile) rs587783376
NM_003238.5(TGFB2):c.932+136C>T rs587776396
NM_004996.4(ABCC1):c.1218+9C>T rs483352877
NM_004996.4(ABCC1):c.1678-34G>A rs483352863
NM_004996.4(ABCC1):c.3139T>G (p.Cys1047Gly) rs483352862
NM_004996.4(ABCC1):c.3391-99G>A rs483352861
NM_004996.4(ABCC1):c.352-79G>A rs587783373
NM_004996.4(ABCC1):c.4551G>A (p.Gln1517=) rs587783374
NM_004996.4(ABCC1):c.596C>T (p.Ser199Leu) rs483352860
NM_004996.4(ABCC1):c.809+16C>T rs483352864
NM_004996.4(ABCC1):c.855G>A (p.Pro285=) rs587783372
NM_005689.4(ABCB6):c.1766G>A (p.Arg589His) rs483352876

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