ClinVar Miner

List of variants studied for disorder of metabolite absorption and transport by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_052845.4(MMAB):c.402G>A (p.Ser134=) rs756766385 0.00004
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219 0.00003
NM_000053.4(ATP7B):c.4319G>A (p.Arg1440Gln) rs201483366 0.00001
NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg) rs149517557 0.00001
NM_000053.4(ATP7B):c.3206A>G (p.His1069Arg) rs201738147

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