ClinVar Miner

List of variants reported as likely pathogenic for achondrogenesis type IA

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004239.4(TRIP11):c.3962T>A (p.Leu1321Ter) rs745372938 0.00009
NM_004239.4(TRIP11):c.3082C>T (p.Arg1028Ter) rs149562813 0.00006
NM_004239.4(TRIP11):c.588+2T>C rs2057114964 0.00001
NM_004239.4(TRIP11):c.1107_1108dup (p.Thr370fs) rs2140129581
NM_004239.4(TRIP11):c.1186+1G>C
NM_004239.4(TRIP11):c.202-2A>G rs863223281
NM_004239.4(TRIP11):c.2498_2501del (p.Lys833fs) rs1085307101
NM_004239.4(TRIP11):c.4834_4837del (p.Lys1612fs) rs1274744069
NM_004239.4(TRIP11):c.5057-1G>A
NM_004239.4(TRIP11):c.5343-1G>C
NM_004239.4(TRIP11):c.5575-1G>A

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