ClinVar Miner

List of variants in gene MC1R reported as likely benign by Invitae

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Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_002386.4(MC1R):c.284C>T (p.Thr95Met) rs34158934 0.00056
NM_002386.4(MC1R):c.842A>G (p.Asn281Ser) rs141177570 0.00050
NM_002386.4(MC1R):c.140G>T (p.Ser47Ile) rs371156858 0.00044
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_002386.4(MC1R):c.652G>A (p.Ala218Thr) rs200965363 0.00025
NM_002386.4(MC1R):c.546C>T (p.Tyr182=) rs370040645 0.00019
NM_002386.4(MC1R):c.492C>T (p.Ala164=) rs367985661 0.00016
NM_002386.4(MC1R):c.444C>T (p.Tyr148=) rs370441592 0.00014
NM_002386.4(MC1R):c.894C>T (p.Tyr298=) rs143395134 0.00014
NM_002386.4(MC1R):c.102G>C (p.Arg34=) rs758135673 0.00013
NM_002386.4(MC1R):c.497C>G (p.Ala166Gly) rs35040147 0.00013
NM_002386.4(MC1R):c.717C>T (p.Gly239=) rs34490506 0.00012
NM_002386.4(MC1R):c.861C>G (p.Ile287Met) rs373957223 0.00010
NM_002386.4(MC1R):c.498G>A (p.Ala166=) rs374959395 0.00008
NM_002386.4(MC1R):c.168C>T (p.Asn56=) rs373707533 0.00006
NM_002386.4(MC1R):c.310G>A (p.Gly104Ser) rs2229617 0.00006
NM_002386.4(MC1R):c.483G>A (p.Ala161=) rs541831292 0.00006
NM_002386.4(MC1R):c.582C>T (p.Val194=) rs373597800 0.00006
NM_002386.4(MC1R):c.126C>T (p.Asp42=) rs373241401 0.00004
NM_002386.4(MC1R):c.171G>A (p.Ala57=) rs774456071 0.00004
NM_002386.4(MC1R):c.241G>C (p.Ala81Pro) rs772286882 0.00004
NM_002386.4(MC1R):c.249G>A (p.Ser83=) rs375562624 0.00004
NM_002386.4(MC1R):c.285G>A (p.Thr95=) rs573416648 0.00004
NM_002386.4(MC1R):c.294C>T (p.Ile98=) rs373401179 0.00004
NM_002386.4(MC1R):c.459C>T (p.His153=) rs762670523 0.00004
NM_002386.4(MC1R):c.561C>T (p.Ala187=) rs370306913 0.00004
NM_002386.4(MC1R):c.576C>G (p.Leu192=) rs566784469 0.00004
NM_002386.4(MC1R):c.663C>T (p.Ile221=) rs375672150 0.00004
NM_002386.4(MC1R):c.945C>T (p.Cys315=) rs1362807899 0.00004
NM_002386.4(MC1R):c.288C>T (p.Ala96=) rs780284801 0.00003
NM_002386.4(MC1R):c.465C>T (p.Ile155=) rs374878766 0.00003
NM_002386.4(MC1R):c.828C>T (p.Ile276=) rs1310618630 0.00003
NM_002386.4(MC1R):c.207G>A (p.Leu69=) rs765848904 0.00002
NM_002386.4(MC1R):c.366G>A (p.Val122=) rs372353477 0.00002
NM_002386.4(MC1R):c.477G>A (p.Pro159=) rs750978167 0.00002
NM_002386.4(MC1R):c.510G>A (p.Val170=) rs778831502 0.00002
NM_002386.4(MC1R):c.540C>T (p.Ile180=) rs371055548 0.00002
NM_002386.4(MC1R):c.690G>A (p.Pro230=) rs752526626 0.00002
NM_002386.4(MC1R):c.729C>T (p.Leu243=) rs369402699 0.00002
NM_002386.4(MC1R):c.935T>C (p.Val312Ala) rs745994833 0.00002
NM_002386.4(MC1R):c.150G>A (p.Leu50=) rs372371887 0.00001
NM_002386.4(MC1R):c.213A>G (p.Ser71=) rs767278343 0.00001
NM_002386.4(MC1R):c.23G>A (p.Arg8Lys) rs554831935 0.00001
NM_002386.4(MC1R):c.255G>C (p.Leu85=) rs1597414901 0.00001
NM_002386.4(MC1R):c.357C>A (p.Val119=) rs755222490 0.00001
NM_002386.4(MC1R):c.423C>T (p.Asp141=) rs755031236 0.00001
NM_002386.4(MC1R):c.48C>T (p.Ser16=) rs1410997617 0.00001
NM_002386.4(MC1R):c.549C>T (p.Tyr183=) rs34209185 0.00001
NM_002386.4(MC1R):c.598C>T (p.Leu200=) rs879937669 0.00001
NM_002386.4(MC1R):c.612C>T (p.Ala204=) rs773313328 0.00001
NM_002386.4(MC1R):c.615G>A (p.Val205=) rs1385523658 0.00001
NM_002386.4(MC1R):c.66C>T (p.Pro22=) rs773395822 0.00001
NM_002386.4(MC1R):c.687C>T (p.Arg229=) rs372852841 0.00001
NM_002386.4(MC1R):c.726C>T (p.Thr242=) rs780347303 0.00001
NM_002386.4(MC1R):c.768C>T (p.Pro256=) rs757162834 0.00001
NM_002386.4(MC1R):c.804C>T (p.Pro268=) rs760209791 0.00001
NM_002386.4(MC1R):c.816G>A (p.Thr272=) rs374760264 0.00001
NM_002386.4(MC1R):c.852C>T (p.Leu284=) rs550480383 0.00001
NM_002386.4(MC1R):c.879C>T (p.Ile293=) rs779680061 0.00001
NM_002386.4(MC1R):c.897C>T (p.Ala299=) rs760953265 0.00001
NM_002386.4(MC1R):c.924G>A (p.Thr308=) rs748972076 0.00001
NM_002386.4(MC1R):c.120C>T (p.Ile40=) rs1555623739
NM_002386.4(MC1R):c.129G>C (p.Gly43=)
NM_002386.4(MC1R):c.135C>G (p.Phe45Leu)
NM_002386.4(MC1R):c.157T>C (p.Leu53=)
NM_002386.4(MC1R):c.199C>A (p.Arg67=) rs372590533
NM_002386.4(MC1R):c.238C>T (p.Leu80=) rs2144391307
NM_002386.4(MC1R):c.264C>T (p.Ser88=)
NM_002386.4(MC1R):c.267G>A (p.Gly89=)
NM_002386.4(MC1R):c.318G>T (p.Leu106=) rs3212364
NM_002386.4(MC1R):c.330T>C (p.Ala110=) rs377050541
NM_002386.4(MC1R):c.337C>T (p.Leu113=)
NM_002386.4(MC1R):c.348G>A (p.Leu116=)
NM_002386.4(MC1R):c.357C>T (p.Val119=)
NM_002386.4(MC1R):c.363C>T (p.Asp121=) rs200616835
NM_002386.4(MC1R):c.372C>G (p.Thr124=) rs1362732149
NM_002386.4(MC1R):c.396C>T (p.Leu132=) rs1060504133
NM_002386.4(MC1R):c.417C>G (p.Ala139=) rs372929572
NM_002386.4(MC1R):c.417C>T (p.Ala139=) rs372929572
NM_002386.4(MC1R):c.450G>C (p.Leu150=) rs2045696881
NM_002386.4(MC1R):c.471C>T (p.Thr157=)
NM_002386.4(MC1R):c.480G>T (p.Arg160=)
NM_002386.4(MC1R):c.513C>T (p.Ala171=) rs775239171
NM_002386.4(MC1R):c.519C>T (p.Val173=)
NM_002386.4(MC1R):c.534C>T (p.Leu178=) rs766933388
NM_002386.4(MC1R):c.564C>A (p.Val188=)
NM_002386.4(MC1R):c.565C>T (p.Leu189=)
NM_002386.4(MC1R):c.568C>T (p.Leu190=)
NM_002386.4(MC1R):c.585C>T (p.Phe195=)
NM_002386.4(MC1R):c.621C>T (p.Tyr207=) rs538459120
NM_002386.4(MC1R):c.63C>T (p.Ile21=) rs2144390786
NM_002386.4(MC1R):c.651C>T (p.His217=) rs756060136
NM_002386.4(MC1R):c.723C>T (p.Val241=)
NM_002386.4(MC1R):c.726C>G (p.Thr242=)
NM_002386.4(MC1R):c.786A>G (p.Thr262=)
NM_002386.4(MC1R):c.855C>T (p.Ala285=)
NM_002386.4(MC1R):c.861C>T (p.Ile287=) rs373957223
NM_002386.4(MC1R):c.873C>T (p.Ala291=)
NM_002386.4(MC1R):c.882C>T (p.Asp294=)
NM_002386.4(MC1R):c.927C>G (p.Leu309=) rs1215576125
NM_002386.4(MC1R):c.937C>T (p.Leu313=)
NM_002386.4(MC1R):c.939G>C (p.Leu313=)

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