ClinVar Miner

List of variants in gene NECTIN4 studied for hereditary epidermal appendage anomaly

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_030916.3(NECTIN4):c.1327C>T (p.Arg443Cys) rs1537044 0.00102
NM_030916.3(NECTIN4):c.1387C>G (p.Pro463Ala) rs142579218 0.00048
NM_030916.3(NECTIN4):c.851G>A (p.Arg284Gln) rs267606991 0.00001
NM_030916.3(NECTIN4):c.1478G>C (p.Arg493Pro) rs753298397
NM_030916.3(NECTIN4):c.1490C>T (p.Thr497Met)
NM_030916.3(NECTIN4):c.1516C>T (p.Arg506Trp)
NM_030916.3(NECTIN4):c.181C>T (p.Gln61Ter) rs1085307125
NM_030916.3(NECTIN4):c.229C>T (p.Gln77Ter) rs1571153052
NM_030916.3(NECTIN4):c.554C>T (p.Thr185Met) rs267606992
NM_030916.3(NECTIN4):c.635C>G (p.Pro212Arg) rs387907014
NM_030916.3(NECTIN4):c.724G>A (p.Val242Met) rs1085307124
NM_030916.3(NECTIN4):c.880C>T (p.Arg294Ter) rs1653335301
NM_030916.3(NECTIN4):c.906del (p.Pro304fs) rs730880260

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