ClinVar Miner

List of variants in gene KRIT1 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_194454.3(KRIT1):c.2102G>A (p.Ser701Asn) rs760437448 0.00004
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs) rs1057517753
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter) rs886039402
NM_194454.3(KRIT1):c.1854dup (p.His619fs) rs1793298143
NM_194454.3(KRIT1):c.68T>G (p.Leu23Arg) rs1799792039
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter) rs1554527169
NM_194454.3(KRIT1):c.990-1G>A rs1554518790

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