ClinVar Miner

List of variants studied for intestinal motility disease by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004963.4(GUCY2C):c.1967A>G (p.Asn656Ser) rs1435086834 0.00005
NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys) rs587777385
NM_004963.4(GUCY2C):c.367T>A (p.Ser123Thr)

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