ClinVar Miner

List of variants in gene combination CFTR, LOC111674472 reported as uncertain significance for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His) rs376968326 0.00011
NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val) rs374403559 0.00009
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His) rs193922516 0.00003
NM_000492.4(CFTR):c.3118C>T (p.Leu1040Phe) rs1562914212
NM_000492.4(CFTR):c.3139G>T (p.Gly1047Cys) rs397508504
NM_000492.4(CFTR):c.3256A>T (p.Thr1086Ser) rs373043500
NM_000492.4(CFTR):c.3303G>A (p.Met1101Ile) rs777445862

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