ClinVar Miner

List of variants in gene ABCB7 reported as uncertain significance for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_001271696.3(ABCB7):c.*113A>G
NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=)
NM_001271696.3(ABCB7):c.1230A>G (p.Leu410=)
NM_001271696.3(ABCB7):c.168+13T>C rs1057515989
NM_001271696.3(ABCB7):c.1802A>G (p.Gln601Arg)
NM_001271696.3(ABCB7):c.1935+5G>C rs763223675
NM_001271696.3(ABCB7):c.1936-3C>G rs1602330362
NM_001271696.3(ABCB7):c.2073T>C (p.His691=)

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