ClinVar Miner

List of variants in gene NHP2 reported as benign for hereditary epidermal appendage anomaly

Included ClinVar conditions (217):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_017838.4(NHP2):c.160+16G>C rs41285577 0.01797
NM_017838.4(NHP2):c.302G>A (p.Arg101Gln) rs145890370 0.00615
NM_017838.4(NHP2):c.270A>G (p.Val90=) rs148179279 0.00121
NM_017838.4(NHP2):c.231-20_231-19del rs1491337170 0.00003
NM_017838.4(NHP2):c.160+11C>T rs201274409
NM_017838.4(NHP2):c.231-13dup
NM_017838.4(NHP2):c.231-17_231-16del rs572960228
NM_017838.4(NHP2):c.336+20del rs542745432

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