ClinVar Miner

List of variants reported as uncertain significance for Alacrima, achalasia, and intellectual disability syndrome by Invitae

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_013335.4(GMPPA):c.1150A>G (p.Ile384Val) rs370710427 0.00033
NM_013335.4(GMPPA):c.466G>A (p.Val156Ile) rs138077680 0.00028
NM_013335.4(GMPPA):c.958C>T (p.Arg320Trp) rs549821547 0.00011
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.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.1046G>A (p.Arg349His) rs568570865 0.00002
NM_013335.4(GMPPA):c.535A>T (p.Ile179Phe) rs1251641134 0.00002
NM_013335.4(GMPPA):c.1052C>T (p.Ala351Val) rs750437487 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.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.1100C>A (p.Ala367Asp)
NM_013335.4(GMPPA):c.1105A>G (p.Met369Val)
NM_013335.4(GMPPA):c.1168C>T (p.Arg390Ter) rs748973371
NM_013335.4(GMPPA):c.12G>A (p.Ala4=) rs1335428636
NM_013335.4(GMPPA):c.193C>T (p.Leu65Phe)
NM_013335.4(GMPPA):c.439A>G (p.Thr147Ala) rs1186293652
NM_013335.4(GMPPA):c.467T>C (p.Val156Ala)
NM_013335.4(GMPPA):c.592T>C (p.Phe198Leu) rs773715630
NM_013335.4(GMPPA):c.872C>T (p.Pro291Leu)

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