ClinVar Miner

List of variants studied for Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome by Revvity Omics, Revvity

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_030632.3(ASXL3):c.4845G>T (p.Arg1615Ser) rs199888171 0.00013
NM_030632.3(ASXL3):c.3136G>A (p.Gly1046Arg) rs376997378 0.00002
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu) rs764053964 0.00001
NM_030632.3(ASXL3):c.1003C>T (p.Arg335Trp)
NM_030632.3(ASXL3):c.1059C>A (p.Phe353Leu)
NM_030632.3(ASXL3):c.1245G>C (p.Glu415Asp)
NM_030632.3(ASXL3):c.1667_1668del (p.Thr556fs) rs2145413226
NM_030632.3(ASXL3):c.1716A>G (p.Ile572Met)
NM_030632.3(ASXL3):c.1768A>G (p.Ile590Val)
NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs) rs1599563995
NM_030632.3(ASXL3):c.2160dup (p.Asp721Ter) rs2145414972
NM_030632.3(ASXL3):c.2591_2597delinsT (p.Lys864_His866delinsIle)
NM_030632.3(ASXL3):c.272A>G (p.Asp91Gly)
NM_030632.3(ASXL3):c.3193C>T (p.Arg1065Trp)
NM_030632.3(ASXL3):c.3526C>T (p.Arg1176Trp)
NM_030632.3(ASXL3):c.36G>A (p.Trp12Ter)
NM_030632.3(ASXL3):c.3750_3753dup (p.His1252fs) rs2145425479
NM_030632.3(ASXL3):c.394C>A (p.Arg132=)
NM_030632.3(ASXL3):c.4011G>T (p.Gln1337His)
NM_030632.3(ASXL3):c.4228C>T (p.His1410Tyr)
NM_030632.3(ASXL3):c.4265C>A (p.Thr1422Lys)
NM_030632.3(ASXL3):c.4336A>T (p.Arg1446Trp)
NM_030632.3(ASXL3):c.4409del (p.Pro1470fs)
NM_030632.3(ASXL3):c.4490G>C (p.Ser1497Thr)
NM_030632.3(ASXL3):c.464A>G (p.Lys155Arg)
NM_030632.3(ASXL3):c.4904A>G (p.Glu1635Gly)
NM_030632.3(ASXL3):c.4944C>G (p.Asn1648Lys)
NM_030632.3(ASXL3):c.5076TCC[1] (p.Pro1694del)
NM_030632.3(ASXL3):c.5468G>T (p.Arg1823Leu)
NM_030632.3(ASXL3):c.5854T>C (p.Ser1952Pro)
NM_030632.3(ASXL3):c.6078_6083del (p.Pro2027_Pro2028del) rs1235588816
NM_030632.3(ASXL3):c.6251T>C (p.Leu2084Pro)
NM_030632.3(ASXL3):c.6366C>A (p.Phe2122Leu)
NM_030632.3(ASXL3):c.641T>C (p.Met214Thr)
NM_030632.3(ASXL3):c.6586C>G (p.Pro2196Ala)

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