ClinVar Miner

List of variants reported as likely benign for alacrima, achalasia, and intellectual disability syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_013335.4(GMPPA):c.214G>A (p.Ala72Thr) rs112693024 0.00118
NM_013335.4(GMPPA):c.756-10C>T rs368738474 0.00061
NM_013335.4(GMPPA):c.858T>C (p.Asn286=) rs145760617 0.00047
NM_013335.4(GMPPA):c.1137G>T (p.Lys379Asn) rs188765261 0.00044
NM_013335.4(GMPPA):c.750C>T (p.Ser250=) rs367640773 0.00031
NM_013335.4(GMPPA):c.40+20G>A rs373938536 0.00029
NM_013335.4(GMPPA):c.40+13G>A rs199872147 0.00024
NM_013335.4(GMPPA):c.921C>T (p.Ile307=) rs145170112 0.00022
NM_013335.4(GMPPA):c.345T>C (p.Ala115=) rs761791232 0.00010
NM_013335.4(GMPPA):c.138+9_138+10del rs757832477 0.00005
NM_013335.4(GMPPA):c.516C>T (p.Ser172=) rs765824301 0.00004
NM_013335.4(GMPPA):c.876C>T (p.Thr292=) rs371527019 0.00003
NM_013335.4(GMPPA):c.864C>T (p.Tyr288=) rs781071244 0.00002
NM_013335.4(GMPPA):c.336G>A (p.Val112=) rs372560013 0.00001
NM_013335.4(GMPPA):c.447C>T (p.Ser149=) rs749971952 0.00001
NM_013335.4(GMPPA):c.571T>C (p.Leu191=) rs560095573 0.00001
NM_013335.4(GMPPA):c.783C>T (p.Tyr261=) rs778374979 0.00001
NM_013335.4(GMPPA):c.1089C>T (p.Asn363=)
NM_013335.4(GMPPA):c.1173C>T (p.Val391=)
NM_013335.4(GMPPA):c.117C>T (p.His39=)
NM_013335.4(GMPPA):c.1185C>T (p.Ala395=)
NM_013335.4(GMPPA):c.243-17C>T
NM_013335.4(GMPPA):c.41-16C>T
NM_013335.4(GMPPA):c.486C>G (p.His162Gln) rs36029384
NM_013335.4(GMPPA):c.486C>T (p.His162=) rs36029384
NM_013335.4(GMPPA):c.490-16C>A rs995824237
NM_013335.4(GMPPA):c.490-18A>G
NM_013335.4(GMPPA):c.490-6C>T
NM_013335.4(GMPPA):c.561T>C (p.Ser187=)
NM_013335.4(GMPPA):c.621-9C>T
NM_013335.4(GMPPA):c.630A>T (p.Ser210=)
NM_013335.4(GMPPA):c.66T>C (p.Phe22=) rs1575219520
NM_013335.4(GMPPA):c.756-18C>A rs1694544584

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