ClinVar Miner

List of variants reported as uncertain significance for Darier disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_001681.3(ATP2A2):c.*148A>C rs749127178
NM_001681.3(ATP2A2):c.*2C>T rs769621334
NM_001681.3(ATP2A2):c.*40G>A rs772831610
NM_001681.3(ATP2A2):c.*45C>T rs777680341
NM_001681.3(ATP2A2):c.*628A>G rs775478812
NM_001681.3(ATP2A2):c.*660_*661delAT rs56170666
NM_001681.3(ATP2A2):c.*764G>A rs533684938
NM_001681.3(ATP2A2):c.*778_*782delTCTAT rs543602946
NM_001681.3(ATP2A2):c.*83G>T rs886048954
NM_001681.3(ATP2A2):c.-167C>T rs886048947
NM_001681.3(ATP2A2):c.-311G>T rs886048946
NM_001681.3(ATP2A2):c.-335C>A rs886048945
NM_001681.3(ATP2A2):c.-476C>T rs886048944
NM_001681.3(ATP2A2):c.-482C>T rs886048943
NM_001681.3(ATP2A2):c.-75C>T rs886048948
NM_001681.3(ATP2A2):c.1122T>C (p.Gly374=) rs772617747
NM_001681.3(ATP2A2):c.136+11C>T rs769052817
NM_001681.3(ATP2A2):c.1758T>C (p.Tyr586=) rs145018250
NM_001681.3(ATP2A2):c.1878C>T (p.Asp626=) rs375770050
NM_001681.3(ATP2A2):c.1912A>G (p.Ile638Val) rs199966458
NM_001681.3(ATP2A2):c.1983C>T (p.Asn661=) rs755494363
NM_001681.3(ATP2A2):c.2185G>A (p.Ala729Thr) rs886048953
NM_001681.3(ATP2A2):c.219+15delA rs750221249
NM_001681.3(ATP2A2):c.2521+4A>C rs191745868
NM_001681.3(ATP2A2):c.2556A>C (p.Ala852=) rs201414100
NM_001681.3(ATP2A2):c.2742-6C>T rs201579013
NM_001681.3(ATP2A2):c.303T>C (p.Asn101=) rs886048950
NM_001681.3(ATP2A2):c.544+10A>G rs886048951
NM_001681.3(ATP2A2):c.555C>G (p.Val185=) rs886048952

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