ClinVar Miner

List of variants studied for apocrine sweat gland disease by OMIM

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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NM_000021.4(PSEN1):c.725del (p.Pro242fs) rs1595035030
NM_015331.3(NCSTN):c.1101+1G>A rs1347055289
NM_015331.3(NCSTN):c.1551+1G>A rs1553210984
NM_015331.3(NCSTN):c.1752del (p.Glu584fs) rs1553211087
NM_015331.3(NCSTN):c.349C>T (p.Arg117Ter) rs387906896
NM_172341.3(PSENEN):c.66del (p.Phe23Leufs) rs1555738837
NM_172341.3(PSENEN):c.66dup (p.Phe23Valfs) rs1555738837
NM_172341.4(PSENEN):c.167-2A>G rs1555738903
NM_172341.4(PSENEN):c.194T>G (p.Leu65Arg) rs1555738906
NM_172341.4(PSENEN):c.279del (p.Phe94fs) rs1555738943
NM_172341.4(PSENEN):c.35T>A (p.Leu12Ter) rs1555738763
NM_172341.4(PSENEN):c.62-1G>C rs1555738836

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