ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Sydney Genome Diagnostics, Children's Hospital Westmead

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter) rs180177210 0.00001
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) rs119490108 0.00001
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732

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