ClinVar Miner

List of variants in gene DPP6 studied for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_130797.4(DPP6):c.723A>G (p.Lys241=) rs3807218 0.82535
NM_130797.4(DPP6):c.813G>A (p.Gln271=) rs61736427 0.02116
NM_130797.4(DPP6):c.627+21101A>G rs117574002 0.00365
NM_130797.4(DPP6):c.58G>A (p.Ala20Thr) rs2533731 0.00027
NM_130797.4(DPP6):c.1621G>A (p.Ala541Thr) rs755543207 0.00021
NM_130797.4(DPP6):c.1565A>G (p.Asn522Ser) rs774538369 0.00006
NM_130797.4(DPP6):c.88G>A (p.Gly30Ser) rs1217247861 0.00003
NM_130797.4(DPP6):c.1391C>T (p.Thr464Met) rs1054264418 0.00001
NM_130797.4(DPP6):c.2304G>C (p.Glu768Asp) rs1584993945 0.00001
NM_001039350.3(DPP6):c.19A>G (p.Ile7Val) rs1798992983
NM_001364497.2(DPP6):c.39T>A (p.Cys13Ter) rs2128935579
NM_130797.4(DPP6):c.1033C>T (p.Pro345Ser)
NM_130797.4(DPP6):c.109G>T (p.Gly37Cys) rs2240820
NM_130797.4(DPP6):c.1153A>C (p.Met385Leu) rs786205143
NM_130797.4(DPP6):c.1388T>C (p.Ile463Thr) rs1554471895
NM_130797.4(DPP6):c.1888G>A (p.Gly630Ser) rs2150654585
NM_130797.4(DPP6):c.2304+2T>C rs931703283
NM_130797.4(DPP6):c.244-1G>A rs2151289543
NM_130797.4(DPP6):c.3G>A (p.Met1Ile)
NM_130797.4(DPP6):c.457+3G>A
NM_130797.4(DPP6):c.668A>G (p.Lys223Arg)
NM_130797.4(DPP6):c.914G>A (p.Trp305Ter) rs1796104181
NM_130797.4(DPP6):c.975C>G (p.Ile325Met)

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