ClinVar Miner

List of variants reported as pathogenic for congenital malabsorptive diarrhea 4

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020999.4(NEUROG3):c.278G>T (p.Arg93Leu) rs121917838 0.00001
NM_020999.4(NEUROG3):c.319C>A (p.Arg107Ser) rs121917837 0.00001
NM_020999.4(NEUROG3):c.162C>A (p.Cys54Ter) rs1461650439
NM_020999.4(NEUROG3):c.284G>C (p.Arg95Pro) rs2133227148
NM_020999.4(NEUROG3):c.371C>G (p.Thr124Arg) rs2133227010

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