ClinVar Miner

Variants in gene MC1R with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 27
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HGVS dbSNP gnomAD frequency
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) rs1805005 0.08197
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_002386.4(MC1R):c.900C>T (p.Phe300=) rs3212367 0.01887
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_002386.4(MC1R):c.586T>C (p.Phe196Leu) rs3212366 0.00938
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu) rs1805006 0.00553
NM_002386.4(MC1R):c.425G>A (p.Arg142His) rs11547464 0.00480
NM_002386.4(MC1R):c.466G>C (p.Val156Leu) rs3212365 0.00443
NM_002386.4(MC1R):c.948C>T (p.Ser316=) rs151318945 0.00223
NM_002386.4(MC1R):c.792C>T (p.Ile264=) rs181269865 0.00205
NM_002386.4(MC1R):c.819C>T (p.Cys273=) rs375813196 0.00148
NM_002386.4(MC1R):c.67C>T (p.Gln23Ter) rs201533137 0.00144
NM_002386.4(MC1R):c.399C>T (p.Cys133=) rs201429598 0.00105
NM_002386.4(MC1R):c.359T>C (p.Ile120Thr) rs33932559 0.00103
NM_002386.4(MC1R):c.309C>T (p.Ala103=) rs140650544 0.00087
NM_002386.4(MC1R):c.453C>G (p.Arg151=) rs201827012 0.00079
NM_002386.4(MC1R):c.247T>C (p.Ser83Pro) rs34474212 0.00069
NM_002386.4(MC1R):c.284C>T (p.Thr95Met) rs34158934 0.00056
NM_002386.4(MC1R):c.364G>A (p.Val122Met) rs201192930 0.00048
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.200G>A (p.Arg67Gln) rs34090186 0.00024
NM_002386.4(MC1R):c.497C>G (p.Ala166Gly) rs35040147 0.00013
NM_002386.4(MC1R):c.241G>C (p.Ala81Pro) rs772286882 0.00004
NM_002386.4(MC1R):c.795C>G (p.Val265=) rs367998996

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