ClinVar Miner

List of variants reported as likely benign for disorder of metabolite absorption and transport by Counsyl

Included ClinVar conditions (85):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_000053.4(ATP7B):c.3489C>T (p.Ser1163=) rs193922106 0.00004
NM_000053.3(ATP7B):c.-122_-118dup rs1555304635
NM_000053.3(ATP7B):c.-127CG[2][1] rs1555304648
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294
NM_052845.4(MMAB):c.584+14_584+33del rs1555274482

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