ClinVar Miner

List of variants studied for hereditary epidermal appendage anomaly by Revvity Omics, Revvity

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_001218.5(CA12):c.908-1G>A rs148438059 0.00043
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu) rs149051014 0.00013
NM_030662.4(MAP2K2):c.604G>A (p.Val202Met) rs769471250 0.00006
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799 0.00005
NM_001005337.3(PKP1):c.136A>T (p.Met46Leu) rs369806569 0.00003
NM_024589.3(ROGDI):c.117+1G>A rs570952151 0.00001
NM_024589.3(ROGDI):c.795G>A (p.Leu265=) rs749782882 0.00001
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr) rs757240576 0.00001
NM_001005337.3(PKP1):c.475C>A (p.Leu159Ile)
NM_001085458.2(CTNND1):c.1754del (p.Asn585fs) rs2137277484
NM_001085458.2(CTNND1):c.1837C>T (p.Pro613Ser)
NM_001142730.3(KCTD1):c.1882C>A (p.Pro628Thr)
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_004278.4(PIGL):c.494+1G>A rs2142864883
NM_013386.5(SLC25A24):c.1A>C (p.Met1Leu)
NM_017410.3(HOXC13):c.325C>T (p.Pro109Ser)
NM_017410.3(HOXC13):c.932G>C (p.Arg311Pro)
NM_020529.3(NFKBIA):c.584A>G (p.Tyr195Cys)
NM_024589.3(ROGDI):c.340C>T (p.Gln114Ter) rs1555491350
NM_024589.3(ROGDI):c.531+5G>T
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517
NM_030916.3(NECTIN4):c.1490C>T (p.Thr497Met)
NM_052989.3(IFT122):c.197A>C (p.Lys66Thr)
NM_052989.3(IFT122):c.3426_3430del (p.Ser1143fs) rs1299632365
NM_052989.3(IFT122):c.3490G>A (p.Val1164Met)
NM_052989.3(IFT122):c.3616A>G (p.Met1206Val)
NM_052989.3(IFT122):c.535A>G (p.Ile179Val)
NM_052989.3(IFT122):c.94G>A (p.Gly32Arg)
NM_138701.4(MPLKIP):c.229del (p.Arg77fs) rs2150561563

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