ClinVar Miner

List of variants in gene ANKRD17 reported as likely pathogenic for Chopra-Amiel-Gordon syndrome

Included ClinVar conditions (1):
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_032217.5(ANKRD17):c.1556T>C (p.Leu519Pro) rs2148854716
NM_032217.5(ANKRD17):c.1887del (p.Gly630fs)
NM_032217.5(ANKRD17):c.2003T>G (p.Leu668Arg) rs2148823766
NM_032217.5(ANKRD17):c.203A>C (p.Gln68Pro)
NM_032217.5(ANKRD17):c.2147T>G (p.Leu716Arg) rs2148821952
NM_032217.5(ANKRD17):c.2590_2591del (p.Lys864fs)
NM_032217.5(ANKRD17):c.3359T>G (p.Leu1120Arg) rs2148719956
NM_032217.5(ANKRD17):c.3557C>G (p.Pro1186Arg) rs2148701869
NM_032217.5(ANKRD17):c.4074G>A (p.Trp1358Ter) rs2148684659
NM_032217.5(ANKRD17):c.4091G>C (p.Gly1364Ala) rs2148684587
NM_032217.5(ANKRD17):c.4828G>T (p.Glu1610Ter) rs1723542820
NM_032217.5(ANKRD17):c.5638T>C (p.Ser1880Pro) rs2110165980
NM_032217.5(ANKRD17):c.6719C>G (p.Pro2240Arg)
NM_032217.5(ANKRD17):c.7300C>G (p.Arg2434Gly) rs143161842
NM_032217.5(ANKRD17):c.7448_7454del (p.Met2483fs)
NM_032217.5(ANKRD17):c.833G>T (p.Gly278Val) rs963581326

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