ClinVar Miner

List of variants in gene combination ABCB7, LOC130068449 reported by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001271696.3(ABCB7):c.121T>C (p.Trp41Arg) rs143380072 0.00063
NM_001271696.3(ABCB7):c.102T>C (p.Val34=) rs151334745 0.00050
NM_001271696.3(ABCB7):c.168+14G>T rs771294443 0.00005
NM_001271696.3(ABCB7):c.5C>T (p.Ala2Val) rs759437344 0.00005
NM_001271696.3(ABCB7):c.94G>T (p.Val32Phe) rs370841909 0.00004
NM_001271696.3(ABCB7):c.117G>T (p.Pro39=) rs756918404 0.00002
NM_001271696.3(ABCB7):c.42G>T (p.Ala14=) rs1371448177 0.00002
NM_001271696.3(ABCB7):c.168+13T>C rs1057515989 0.00001
NM_001271696.3(ABCB7):c.168+8G>A rs777208736 0.00001
NM_001271696.3(ABCB7):c.12C>T (p.Leu4=) rs2519957309
NM_001271696.3(ABCB7):c.144C>G (p.Ala48=)
NM_001271696.3(ABCB7):c.14C>A (p.Ala5Glu)
NM_001271696.3(ABCB7):c.168+3G>A rs746168059
NM_001271696.3(ABCB7):c.29G>T (p.Arg10Leu)
NM_001271696.3(ABCB7):c.5C>G (p.Ala2Gly)
NM_001271696.3(ABCB7):c.72C>T (p.Ser24=)
NM_001271696.3(ABCB7):c.81G>C (p.Leu27=) rs1602428880

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