ClinVar Miner

List of variants studied for Congenital diarrhea

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005379.4(MYO1A):c.2032A>T (p.Ile678Phe) rs151269703 0.00264
NM_005379.4(MYO1A):c.718G>A (p.Asp240Asn)
NM_031485.4(GRWD1):c.1102G>T (p.Val368Phe)
NM_031485.4(GRWD1):c.920A>G (p.His307Arg)
NM_032355.4(MON1A):c.454C>T (p.Arg152Cys)

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