ClinVar Miner

List of variants studied for apocrine sweat gland disease

Included ClinVar conditions (5):
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ClinVar version:
Total variants: 45
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HGVS dbSNP
NM_000021.3(PSEN1):c.-296C>T rs1800839
NM_000021.3(PSEN1):c.-528C>G rs34086577
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr)
NM_000021.4(PSEN1):c.1148T>G (p.Leu383Trp) rs1566656647
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) rs661
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000021.4(PSEN1):c.1369A>G (p.Met457Val)
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) rs63749824
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) rs63750450
NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn)
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg)
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser) rs63751278
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro) rs63750155
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082
NM_000021.4(PSEN1):c.622G>T (p.Val208Leu)
NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu)
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) rs63750053
NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln)
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) rs63750526
NM_000021.4(PSEN1):c.806G>A (p.Arg269His) rs63750900
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) rs63750231
NM_000021.4(PSEN1):c.869-2A>T rs1566650594
NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala)
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721
NM_015331.3(NCSTN):c.1101+1G>A rs1347055289
NM_015331.3(NCSTN):c.1300C>T (p.Arg434Ter) rs1085307081
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_015331.3(NCSTN):c.944C>T (p.Ala315Val) rs1553210405
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.61+17G>C rs10402601
NM_172341.4(PSENEN):c.62-1G>C rs1555738836
PSEN1, 1-BP DEL, 725C

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