ClinVar Miner

List of variants in gene combination C12orf43, HNF1A reported as likely pathogenic for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1772_1773del (p.Ser591fs) rs2135854397
NM_000545.8(HNF1A):c.1786del (p.Val596fs) rs2135854461
NM_000545.8(HNF1A):c.1802del (p.Ser600_Ser601insTer) rs2135854520
NM_000545.8(HNF1A):c.1822_1829del (p.Ser608fs) rs1555212749
NM_000545.8(HNF1A):c.1840_1841del (p.Asn614fs) rs2135854670

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