ClinVar Miner

List of variants in gene combination AIFM1, RAB33A reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_004208.4(AIFM1):c.-185G>A rs770317876 0.00080
NM_004208.4(AIFM1):c.1458G>A (p.Leu486=) rs762808288 0.00034
NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) rs781350745 0.00009
NM_004208.4(AIFM1):c.287A>G (p.Asn96Ser) rs764149793 0.00008
NM_004208.4(AIFM1):c.134C>G (p.Pro45Arg) rs756361109 0.00007
NM_004208.4(AIFM1):c.556A>G (p.Asn186Asp) rs765298573 0.00004
NM_004208.4(AIFM1):c.1113C>T (p.Ser371=) rs724160027 0.00003
NM_004208.4(AIFM1):c.952G>A (p.Ala318Thr) rs773680831 0.00003
NM_004208.4(AIFM1):c.1713A>G (p.Lys571=) rs777563453 0.00002
NM_004208.4(AIFM1):c.801G>A (p.Leu267=) rs373960871 0.00002
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004208.4(AIFM1):c.1602A>G (p.Thr534=)
NM_004208.4(AIFM1):c.1669G>A (p.Gly557Arg)
NM_004208.4(AIFM1):c.176C>T (p.Ala59Val)
NM_004208.4(AIFM1):c.184G>A (p.Gly62Ser)
NM_004208.4(AIFM1):c.192C>T (p.Ile64=)
NM_004208.4(AIFM1):c.458G>A (p.Arg153Gln)
NM_004208.4(AIFM1):c.968-340A>G

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