ClinVar Miner

List of variants studied for acrokeratosis verruciformis

Included ClinVar conditions (2):
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_170665.4(ATP2A2):c.2172G>A (p.Ala724=) rs56243033 0.05127
NM_170665.4(ATP2A2):c.1420-8C>G rs112499287 0.02475
NM_170665.4(ATP2A2):c.220-18G>A rs35235621 0.01583
NM_170665.4(ATP2A2):c.81A>G (p.Glu27=) rs3026434 0.01060
NM_170665.4(ATP2A2):c.-10C>G rs201929640 0.00698
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=) rs55984131 0.00696
NM_170665.4(ATP2A2):c.1096-16C>T rs56253731 0.00688
NM_170665.4(ATP2A2):c.2628A>G (p.Lys876=) rs149324360 0.00647
NM_170665.4(ATP2A2):c.1323A>G (p.Thr441=) rs148550709 0.00196
NM_170665.4(ATP2A2):c.1167T>C (p.Tyr389=) rs115016152 0.00148
NM_170665.4(ATP2A2):c.2202G>A (p.Leu734=) rs12312588 0.00064
NM_170665.4(ATP2A2):c.2319-12G>A rs369489819 0.00056
NM_170665.4(ATP2A2):c.545-7C>T rs369585470 0.00038
NM_170665.4(ATP2A2):c.1287+3A>G rs376753206 0.00017
NM_170665.4(ATP2A2):c.2742-6C>T rs201579013 0.00001
NM_170665.4(ATP2A2):c.136+21_136+22del rs763637617
NM_170665.4(ATP2A2):c.1805C>T (p.Pro602Leu) rs121912737
NM_170665.4(ATP2A2):c.2030G>C (p.Arg677Pro) rs1879294675
NM_170665.4(ATP2A2):c.2058C>T (p.Ile686=) rs140766323
NM_170665.4(ATP2A2):c.2093C>T (p.Ala698Val) rs387906594
NM_170665.4(ATP2A2):c.2860-10TG[2] rs372303998
NM_170665.4(ATP2A2):c.2925C>T (p.Pro975=) rs147558863
NM_170665.4(ATP2A2):c.688A>G (p.Thr230Ala) rs1337166364

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