ClinVar Miner

List of variants in gene NHP2 reported as likely benign for ectodermal dysplasia syndrome

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
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.160+18G>T rs202078932 0.00027
NM_017838.4(NHP2):c.143A>G (p.Tyr48Cys) rs200150979 0.00013
NM_017838.4(NHP2):c.72C>T (p.Tyr24=) rs202221169 0.00011
NM_017838.4(NHP2):c.230+17C>T rs766892858 0.00006
NM_017838.4(NHP2):c.105G>A (p.Ala35=) rs373176167 0.00005
NM_017838.4(NHP2):c.336+12G>A rs202050768 0.00003
NM_017838.4(NHP2):c.112C>T (p.Leu38=) rs925125777 0.00002
NM_017838.4(NHP2):c.160+8G>A rs777793268 0.00002
NM_017838.4(NHP2):c.195A>G (p.Lys65=) rs543057099 0.00002
NM_017838.4(NHP2):c.160+9G>A rs756638436 0.00001
NM_017838.4(NHP2):c.230+19C>G rs1244247196 0.00001
NM_017838.4(NHP2):c.132G>A (p.Thr44=) rs764657822
NM_017838.4(NHP2):c.15G>A (p.Lys5=)
NM_017838.4(NHP2):c.160+10A>C rs376220034
NM_017838.4(NHP2):c.160+10A>G rs376220034
NM_017838.4(NHP2):c.160+10A>T rs376220034
NM_017838.4(NHP2):c.160+11C>A rs201274409
NM_017838.4(NHP2):c.160+11C>G rs201274409
NM_017838.4(NHP2):c.160+12G>A
NM_017838.4(NHP2):c.160+13G>A rs2113476424
NM_017838.4(NHP2):c.160+14C>A
NM_017838.4(NHP2):c.160+16G>A
NM_017838.4(NHP2):c.160+7C>T
NM_017838.4(NHP2):c.160+9del
NM_017838.4(NHP2):c.161-15C>G rs774227396
NM_017838.4(NHP2):c.161-17C>T
NM_017838.4(NHP2):c.161-4G>A
NM_017838.4(NHP2):c.161-5T>G
NM_017838.4(NHP2):c.161-7G>A
NM_017838.4(NHP2):c.161-8C>T
NM_017838.4(NHP2):c.162G>C (p.Ala54=)
NM_017838.4(NHP2):c.186C>G (p.Arg62=)
NM_017838.4(NHP2):c.18A>G (p.Ala6=)
NM_017838.4(NHP2):c.210T>C (p.Phe70=)
NM_017838.4(NHP2):c.213C>G (p.Val71=) rs575702154
NM_017838.4(NHP2):c.230+13C>A
NM_017838.4(NHP2):c.230+13C>T rs1561645171
NM_017838.4(NHP2):c.230+16C>T
NM_017838.4(NHP2):c.230+8C>A rs764940566
NM_017838.4(NHP2):c.230+9C>A
NM_017838.4(NHP2):c.231-13TC[2]
NM_017838.4(NHP2):c.231-20dup
NM_017838.4(NHP2):c.24C>G (p.Pro8=)
NM_017838.4(NHP2):c.267G>A (p.Glu89=)
NM_017838.4(NHP2):c.27C>T (p.Asp9=) rs1178370439
NM_017838.4(NHP2):c.324C>T (p.Ile108=)
NM_017838.4(NHP2):c.336+11C>T
NM_017838.4(NHP2):c.336+18C>T
NM_017838.4(NHP2):c.336+20_336+21del
NM_017838.4(NHP2):c.336+20del rs542745432
NM_017838.4(NHP2):c.33C>G (p.Pro11=)
NM_017838.4(NHP2):c.45G>A (p.Ala15=)
NM_017838.4(NHP2):c.60G>C (p.Gly20=)

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