ClinVar Miner

List of variants in gene ABCB1 reported as benign

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=) rs1128503 0.63165
NM_001348946.2(ABCB1):c.3435T>C (p.Ile1145=) rs1045642 0.57896
NM_001348946.2(ABCB1):c.3435= (p.Ile1145=) rs1045642 0.42104
NM_001348946.2(ABCB1):c.287-25G>T rs2235015 0.23041
NM_001348946.2(ABCB1):c.1199G>A (p.Ser400Asn) rs2229109 0.02618
NM_001348946.2(ABCB1):c.3320A>C (p.Gln1107Pro) rs55852620 0.00629
NM_001348946.2(ABCB1):c.781A>G (p.Ile261Val) rs36008564 0.00614
NM_001348946.2(ABCB1):c.3751G>A (p.Val1251Ile) rs28364274 0.00469
NM_001348946.2(ABCB1):c.1225-4G>A rs2032586 0.00379
NM_001348946.2(ABCB1):c.1662G>C (p.Leu554=) rs2235012 0.00375
NM_001348946.2(ABCB1):c.2650C>T (p.Leu884=) rs9282563 0.00369
NM_001348946.2(ABCB1):c.729A>G (p.Glu243=) rs2235022 0.00330
NM_001348946.2(ABCB1):c.548A>G (p.Asn183Ser) rs60419673 0.00123
NM_001348946.2(ABCB1):c.3396C>T (p.Ala1132=) rs34748655 0.00093
GRCh37/hg19 7q21.12(chr7:87236013-87251641)x1
NM_001348946.2(ABCB1):c.-43A>G
NM_001348946.2(ABCB1):c.2677T>A (p.Ser893Thr) rs2032582
NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) rs2032582

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