ClinVar Miner

List of variants in gene ELANE reported as likely pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001972.4(ELANE):c.364C>T (p.Gln122Ter) rs1303279241 0.00001
NM_001972.4(ELANE):c.427C>T (p.Arg143Cys) rs199558534 0.00001
NM_001972.4(ELANE):c.136_141del (p.Ser46_Leu47del) rs1555709349
NM_001972.4(ELANE):c.137C>A (p.Ser46Tyr) rs878855320
NM_001972.4(ELANE):c.157C>T (p.His53Tyr) rs1131691882
NM_001972.4(ELANE):c.158A>T (p.His53Leu)
NM_001972.4(ELANE):c.170C>T (p.Ala57Val) rs1057520110
NM_001972.4(ELANE):c.176T>G (p.Leu59Arg) rs1555709367
NM_001972.4(ELANE):c.194T>A (p.Val65Asp) rs2035617899
NM_001972.4(ELANE):c.251T>C (p.Leu84Pro) rs1064793108
NM_001972.4(ELANE):c.254G>A (p.Gly85Glu) rs2145145006
NM_001972.4(ELANE):c.258_269dup (p.His87_Ser90dup) rs1468631555
NM_001972.4(ELANE):c.290A>C (p.Gln97Pro) rs1085307717
NM_001972.4(ELANE):c.305A>C (p.Gln102Pro) rs568474579
NM_001972.4(ELANE):c.308G>T (p.Arg103Leu) rs745455816
NM_001972.4(ELANE):c.457G>C (p.Ala153Pro)
NM_001972.4(ELANE):c.558C>A (p.Val186=) rs878855317
NM_001972.4(ELANE):c.597+3A>T rs2145149093
NM_001972.4(ELANE):c.605C>T (p.Ser202Phe) rs878855321
NM_001972.4(ELANE):c.614C>G (p.Pro205Arg) rs1555710077
NM_001972.4(ELANE):c.722G>A (p.Trp241Ter) rs2035677025
NM_001972.4(ELANE):c.90T>G (p.Ile30Met) rs2035615592
NM_001972.4(ELANE):c.98del (p.Gly33fs)

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