ClinVar Miner

List of variants in gene MC1R reported as benign by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_002386.3(MC1R):c.-1063T>C rs3212357 0.59709
NM_002386.3(MC1R):c.-928A>G rs3212358 0.59357
NM_002386.3(MC1R):c.-1297T>C rs3212354 0.59089
NM_002386.3(MC1R):c.-490C>T rs3212359 0.44378
NM_002386.4(MC1R):c.-226A>T rs3212363 0.36642
NM_002386.3(MC1R):c.-445G>A rs3212361 0.33371
NM_002386.4(MC1R):c.*140A>G rs3212369 0.22392
NM_002386.4(MC1R):c.942A>G (p.Thr314=) rs2228478 0.20949
NM_002386.4(MC1R):c.*581A>G rs3212371 0.16251
NM_002386.4(MC1R):c.488G>A (p.Arg163Gln) rs885479 0.08396
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) rs1805005 0.08197
NM_002386.4(MC1R):c.274G>A (p.Val92Met) rs2228479 0.06520
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_002386.4(MC1R):c.*12G>A rs3212368 0.04681
NM_002386.4(MC1R):c.318G>A (p.Leu106=) rs3212364 0.01163
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_002386.4(MC1R):c.-356A>G rs76337330 0.00704
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu) rs1805006 0.00553
NM_002386.3(MC1R):c.-1092G>A rs58664942 0.00514
NM_002386.3(MC1R):c.-450C>T rs3212360 0.00463
NM_002386.4(MC1R):c.*337A>G rs143513600 0.00365
NM_002386.3(MC1R):c.-536C>T rs3212379 0.00361
NM_002386.4(MC1R):c.699G>A (p.Gln233=) rs146544450 0.00218
NM_002386.4(MC1R):c.-323G>A rs3212362 0.00200
NM_002386.3(MC1R):c.-1251C>T rs536447537 0.00145
NM_002386.3(MC1R):c.-1234C>T rs530536156 0.00118
NM_002386.4(MC1R):c.-374G>A rs555058897 0.00115
NM_002386.4(MC1R):c.*380C>G rs764002798 0.00105
NM_002386.4(MC1R):c.-114G>A rs148003355 0.00104
NM_002386.4(MC1R):c.*209C>A rs551043523 0.00097
NM_002386.4(MC1R):c.284C>T (p.Thr95Met) rs34158934 0.00056
NM_002386.4(MC1R):c.133T>C (p.Phe45Leu) rs61996344 0.00039
NM_002386.4(MC1R):c.555C>T (p.His185=) rs199920775 0.00030
NM_002386.3(MC1R):c.*761C>A rs559928561 0.00025
NM_002386.3(MC1R):c.-1016C>G rs563638700 0.00023
NM_002386.4(MC1R):c.917G>A (p.Arg306His) rs368507952 0.00016
NM_002386.4(MC1R):c.-13C>T rs375789795 0.00015
NM_002386.4(MC1R):c.497C>G (p.Ala166Gly) rs35040147 0.00013
NM_002386.3(MC1R):c.-535G>A rs557576978 0.00008
NM_002386.4(MC1R):c.241G>C (p.Ala81Pro) rs772286882 0.00004
NM_002386.4(MC1R):c.869A>G (p.Asn290Ser) rs373703770 0.00002
NM_002386.3(MC1R):c.-1371C>G rs546542914
NM_002386.4(MC1R):c.*157C>A rs3212370
NM_002386.4(MC1R):c.*76C>T rs545888975
NM_002386.4(MC1R):c.667C>T (p.Arg223Trp) rs372152373

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