ClinVar Miner

List of variants studied for Alacrima, achalasia, and intellectual disability syndrome

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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_013335.4(GMPPA):c.1162+37T>A rs10932808 0.95585
NM_013335.4(GMPPA):c.1053C>G (p.Ala351=) rs1046474 0.11761
NM_013335.4(GMPPA):c.1162+18C>T rs111553864 0.03828
NM_013335.4(GMPPA):c.945G>A (p.Glu315=) rs13428617 0.02201
NM_013335.4(GMPPA):c.213C>T (p.Ala71=) rs41272703 0.01225
NM_013335.4(GMPPA):c.40+15G>A rs80239182 0.00978
NM_013335.4(GMPPA):c.441G>A (p.Thr147=) rs150386940 0.00726
NM_013335.4(GMPPA):c.768C>T (p.Tyr256=) rs146215853 0.00322
NM_013335.4(GMPPA):c.190C>T (p.Pro64Ser) rs34873891 0.00230
NM_013335.4(GMPPA):c.214G>A (p.Ala72Thr) rs112693024 0.00118
NM_013335.4(GMPPA):c.489+16G>A rs202131537 0.00085
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.366C>G (p.Pro122=) rs186735505 0.00035
NM_013335.4(GMPPA):c.1150A>G (p.Ile384Val) rs370710427 0.00033
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.466G>A (p.Val156Ile) rs138077680 0.00028
NM_013335.4(GMPPA):c.40+13G>A rs199872147 0.00024
NM_013335.4(GMPPA):c.242+19G>A rs201263031 0.00022
NM_013335.4(GMPPA):c.921C>T (p.Ile307=) rs145170112 0.00022
NM_013335.4(GMPPA):c.495G>A (p.Leu165=) rs181901772 0.00020
NM_013335.4(GMPPA):c.958C>T (p.Arg320Trp) rs549821547 0.00011
NM_013335.4(GMPPA):c.345T>C (p.Ala115=) rs761791232 0.00010
NM_013335.4(GMPPA):c.108G>C (p.Met36Ile) rs745438072 0.00009
NM_013335.4(GMPPA):c.877G>A (p.Ala293Thr) rs151043830 0.00009
NM_013335.4(GMPPA):c.637_640dup (p.Trp214fs) rs745806762 0.00007
NM_013335.4(GMPPA):c.300C>T (p.Asp100=) rs779526489 0.00006
NM_013335.4(GMPPA):c.138+9_138+10del rs757832477 0.00005
NM_013335.4(GMPPA):c.583C>T (p.Arg195Trp) rs147832114 0.00005
NM_013335.4(GMPPA):c.250C>A (p.Gln84Lys) rs767718283 0.00004
NM_013335.4(GMPPA):c.280G>T (p.Gly94Cys) rs753112469 0.00004
NM_013335.4(GMPPA):c.516C>T (p.Ser172=) rs765824301 0.00004
NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter) rs770582052 0.00003
NM_013335.4(GMPPA):c.876C>T (p.Thr292=) rs371527019 0.00003
NM_013335.4(GMPPA):c.1046G>A (p.Arg349His) rs568570865 0.00002
NM_013335.4(GMPPA):c.535A>T (p.Ile179Phe) rs1251641134 0.00002
NM_013335.4(GMPPA):c.864C>T (p.Tyr288=) rs781071244 0.00002
NM_013335.4(GMPPA):c.1052C>T (p.Ala351Val) rs750437487 0.00001
NM_013335.4(GMPPA):c.295C>T (p.Arg99Ter) rs397518460 0.00001
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.799G>A (p.Asp267Asn) rs1382726525 0.00001
NC_000002.11:g.(?_218999525)_(220435954_?)dup
NM_013335.4(GMPPA):c.1000A>C (p.Thr334Pro) rs397518461
NM_013335.4(GMPPA):c.1039G>A (p.Val347Met)
NM_013335.4(GMPPA):c.1045C>T (p.Arg349Cys)
NM_013335.4(GMPPA):c.1057G>A (p.Val353Met)
NM_013335.4(GMPPA):c.1089C>T (p.Asn363=)
NM_013335.4(GMPPA):c.1100C>A (p.Ala367Asp)
NM_013335.4(GMPPA):c.1105A>G (p.Met369Val)
NM_013335.4(GMPPA):c.1118G>C (p.Ser373Thr) rs1694593071
NM_013335.4(GMPPA):c.1168C>T (p.Arg390Ter) rs748973371
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.118del (p.His40fs)
NM_013335.4(GMPPA):c.12G>A (p.Ala4=) rs1335428636
NM_013335.4(GMPPA):c.193C>T (p.Leu65Phe)
NM_013335.4(GMPPA):c.210del (p.Ala71fs) rs886037654
NM_013335.4(GMPPA):c.243-17C>T
NM_013335.4(GMPPA):c.382G>T (p.Glu128Ter) rs2125629897
NM_013335.4(GMPPA):c.400C>T (p.Arg134Cys)
NM_013335.4(GMPPA):c.41-16C>T
NM_013335.4(GMPPA):c.439A>G (p.Thr147Ala) rs1186293652
NM_013335.4(GMPPA):c.467T>C (p.Val156Ala)
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.545G>A (p.Gly182Asp) rs397518462
NM_013335.4(GMPPA):c.561T>C (p.Ser187=)
NM_013335.4(GMPPA):c.592T>C (p.Phe198Leu) rs773715630
NM_013335.4(GMPPA):c.621-9C>T
NM_013335.4(GMPPA):c.630A>T (p.Ser210=)
NM_013335.4(GMPPA):c.642G>A (p.Trp214Ter) rs2125639654
NM_013335.4(GMPPA):c.66T>C (p.Phe22=) rs1575219520
NM_013335.4(GMPPA):c.756-18C>A rs1694544584
NM_013335.4(GMPPA):c.790C>T (p.Arg264Ter)
NM_013335.4(GMPPA):c.853+1G>A rs1553624347
NM_013335.4(GMPPA):c.872C>T (p.Pro291Leu)
NM_013335.4(GMPPA):c.905G>A (p.Gly302Asp)

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