ClinVar Miner

List of variants in gene ABCB7 reported as likely benign for not provided

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Gene type:
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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_001271696.3(ABCB7):c.169-227A>T rs5981769 0.01516
NM_001271696.3(ABCB7):c.2044-269C>G rs28631497 0.01432
NM_001271696.3(ABCB7):c.246+67A>G rs41305387 0.01394
NM_001271696.3(ABCB7):c.2044-24G>A rs142425608 0.01329
NM_001271696.3(ABCB7):c.1832-250A>G rs141339613 0.01149
NM_001271696.3(ABCB7):c.1832-266T>A rs144710934 0.01148
NM_001271696.3(ABCB7):c.1320T>C (p.Asp440=) rs45598734 0.01040
NM_001271696.3(ABCB7):c.453+321A>G rs144116778 0.00944
NM_001271696.3(ABCB7):c.168+220C>A rs2298119 0.00870
NM_001271696.3(ABCB7):c.333+156T>C rs115106615 0.00682
NM_001271696.3(ABCB7):c.856-37A>G rs190165721 0.00492
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His) rs114142266 0.00447
NM_001271696.3(ABCB7):c.1831+52dup rs113812149 0.00406
NM_001271696.3(ABCB7):c.1936-76G>C rs145497613 0.00382
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln) rs147584361 0.00272
NM_001271696.3(ABCB7):c.1366-37G>A rs140207514 0.00207
NM_001271696.3(ABCB7):c.361A>G (p.Ile121Val) rs147898380 0.00108
NM_001271696.3(ABCB7):c.1764T>C (p.His588=) rs150273961 0.00082
NM_001271696.3(ABCB7):c.958A>G (p.Ile320Val) rs1133578 0.00028
NM_001271696.3(ABCB7):c.2044-34C>T rs769374153 0.00021
NM_001271696.3(ABCB7):c.1950C>G (p.Ala650=) rs367870900 0.00008
NM_001271696.3(ABCB7):c.241G>A (p.Ala81Thr) rs147709009 0.00005
NM_001271696.3(ABCB7):c.211A>G (p.Lys71Glu) rs201842753 0.00004
NM_001271696.3(ABCB7):c.1158T>C (p.Ser386=) rs1268328600 0.00002
NM_001271696.3(ABCB7):c.1161C>T (p.Val387=) rs756266541 0.00002
NM_001271696.3(ABCB7):c.1713C>A (p.Ile571=) rs1456861126 0.00001
NM_001271696.3(ABCB7):c.*115_*119del
NM_001271696.3(ABCB7):c.1033-209C>G rs144548601
NM_001271696.3(ABCB7):c.1033-4G>C
NM_001271696.3(ABCB7):c.1033-5T>C
NM_001271696.3(ABCB7):c.1102T>C (p.Leu368=)
NM_001271696.3(ABCB7):c.1207+18_1207+19del
NM_001271696.3(ABCB7):c.1207+9T>G
NM_001271696.3(ABCB7):c.1208-10G>T rs1279767209
NM_001271696.3(ABCB7):c.1208-8C>T rs1335485126
NM_001271696.3(ABCB7):c.1208-9C>T rs1443391963
NM_001271696.3(ABCB7):c.1366-114T>C rs192930091
NM_001271696.3(ABCB7):c.1476C>T (p.Ser492=)
NM_001271696.3(ABCB7):c.1551A>G (p.Leu517=)
NM_001271696.3(ABCB7):c.1659+15A>G
NM_001271696.3(ABCB7):c.1659+20A>G
NM_001271696.3(ABCB7):c.1689T>C (p.Tyr563=)
NM_001271696.3(ABCB7):c.1734G>A (p.Val578=)
NM_001271696.3(ABCB7):c.1812A>G (p.Glu604=)
NM_001271696.3(ABCB7):c.1914G>A (p.Ser638=)
NM_001271696.3(ABCB7):c.1936-16A>G
NM_001271696.3(ABCB7):c.1936-4G>C
NM_001271696.3(ABCB7):c.1957G>T (p.Asp653Tyr)
NM_001271696.3(ABCB7):c.1962G>C (p.Val654=)
NM_001271696.3(ABCB7):c.2022T>C (p.Asp674=)
NM_001271696.3(ABCB7):c.2044-17A>C
NM_001271696.3(ABCB7):c.2044-8C>T
NM_001271696.3(ABCB7):c.2055C>T (p.Ala685=)
NM_001271696.3(ABCB7):c.2121A>G (p.Thr707=)
NM_001271696.3(ABCB7):c.2179A>T (p.Ile727Leu)
NM_001271696.3(ABCB7):c.2256C>T (p.Cys752=)
NM_001271696.3(ABCB7):c.246+11G>A
NM_001271696.3(ABCB7):c.264A>G (p.Pro88=)
NM_001271696.3(ABCB7):c.333+138_333+142del rs760851046
NM_001271696.3(ABCB7):c.333+18_333+21del
NM_001271696.3(ABCB7):c.334-43dup rs535838653
NM_001271696.3(ABCB7):c.334-7del rs772845174
NM_001271696.3(ABCB7):c.363A>T (p.Ile121=)
NM_001271696.3(ABCB7):c.429G>A (p.Ser143=)
NM_001271696.3(ABCB7):c.454-18A>T
NM_001271696.3(ABCB7):c.516G>A (p.Ser172=)
NM_001271696.3(ABCB7):c.534G>C (p.Leu178=)
NM_001271696.3(ABCB7):c.587-5G>A
NM_001271696.3(ABCB7):c.621C>T (p.Asn207=)
NM_001271696.3(ABCB7):c.723C>T (p.His241=)
NM_001271696.3(ABCB7):c.730A>C (p.Arg244=)
NM_001271696.3(ABCB7):c.796G>T (p.Ala266Ser)
NM_001271696.3(ABCB7):c.855+18C>T
NM_001271696.3(ABCB7):c.855+9A>G
NM_001271696.3(ABCB7):c.867C>T (p.Cys289=)
NM_001271696.3(ABCB7):c.944+10T>A
NM_001271696.3(ABCB7):c.945-13C>A

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