ClinVar Miner

List of variants in gene ANKRD17 studied for Chopra-Amiel-Gordon syndrome

Included ClinVar conditions (1):
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_032217.5(ANKRD17):c.7454A>C (p.His2485Pro) rs1374134674 0.00001
NM_032217.5(ANKRD17):c.1408C>T (p.Pro470Ser) rs2148855219
NM_032217.5(ANKRD17):c.1556T>C (p.Leu519Pro) rs2148854716
NM_032217.5(ANKRD17):c.1861G>A (p.Ala621Thr)
NM_032217.5(ANKRD17):c.1887del (p.Gly630fs)
NM_032217.5(ANKRD17):c.1927G>A (p.Val643Ile)
NM_032217.5(ANKRD17):c.1945_1950del (p.Leu649_Ile650del)
NM_032217.5(ANKRD17):c.1958-2A>C rs2148823868
NM_032217.5(ANKRD17):c.2003T>G (p.Leu668Arg) rs2148823766
NM_032217.5(ANKRD17):c.203A>C (p.Gln68Pro)
NM_032217.5(ANKRD17):c.2053G>A (p.Ala685Thr)
NM_032217.5(ANKRD17):c.2110G>T (p.Ala704Ser)
NM_032217.5(ANKRD17):c.2147T>G (p.Leu716Arg) rs2148821952
NM_032217.5(ANKRD17):c.2272C>T (p.Pro758Ser)
NM_032217.5(ANKRD17):c.2590_2591del (p.Lys864fs)
NM_032217.5(ANKRD17):c.2623G>T (p.Glu875Ter) rs1578168407
NM_032217.5(ANKRD17):c.2892_2912dup (p.Pro971_Gly972insAlaAlaGlyProLeuProPro)
NM_032217.5(ANKRD17):c.2915G>A (p.Gly972Glu)
NM_032217.5(ANKRD17):c.3359T>G (p.Leu1120Arg) rs2148719956
NM_032217.5(ANKRD17):c.344A>C (p.Asn115Thr)
NM_032217.5(ANKRD17):c.3557C>G (p.Pro1186Arg) rs2148701869
NM_032217.5(ANKRD17):c.3751_3754del (p.Asn1251fs) rs1726649573
NM_032217.5(ANKRD17):c.3788G>C (p.Gly1263Ala)
NM_032217.5(ANKRD17):c.4066C>T (p.Pro1356Ser) rs2148684710
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.4094A>G (p.His1365Arg)
NM_032217.5(ANKRD17):c.4341_4344del (p.Gln1448fs) rs2148661856
NM_032217.5(ANKRD17):c.4442_4448del (p.Arg1481fs)
NM_032217.5(ANKRD17):c.4574A>G (p.Asp1525Gly)
NM_032217.5(ANKRD17):c.4828G>T (p.Glu1610Ter) rs1723542820
NM_032217.5(ANKRD17):c.5135G>A (p.Arg1712His)
NM_032217.5(ANKRD17):c.5360_5363del (p.Gln1787fs) rs2110167415
NM_032217.5(ANKRD17):c.5638T>C (p.Ser1880Pro) rs2110165980
NM_032217.5(ANKRD17):c.5756dup (p.Ala1920fs) rs1722830922
NM_032217.5(ANKRD17):c.6160G>A (p.Gly2054Arg)
NM_032217.5(ANKRD17):c.6719C>G (p.Pro2240Arg)
NM_032217.5(ANKRD17):c.6961+2T>C
NM_032217.5(ANKRD17):c.7300C>G (p.Arg2434Gly) rs143161842
NM_032217.5(ANKRD17):c.7448_7454del (p.Met2483fs)
NM_032217.5(ANKRD17):c.7729A>C (p.Thr2577Pro)
NM_032217.5(ANKRD17):c.7799A>G (p.Asn2600Ser)
NM_032217.5(ANKRD17):c.833G>T (p.Gly278Val) rs963581326

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