ClinVar Miner

List of variants in gene KANK1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_015158.5(KANK1):c.149A>T (p.Asp50Val) rs61737971 0.00617
NM_015158.5(KANK1):c.3912G>A (p.Ala1304=) rs114114032 0.00369
NM_015158.5(KANK1):c.1517T>C (p.Met506Thr) rs115415837 0.00280
NM_015158.5(KANK1):c.1377G>A (p.Gln459=) rs114868002 0.00277
NM_015158.5(KANK1):c.804C>T (p.Ala268=) rs116693683 0.00275
NM_015158.5(KANK1):c.528G>A (p.Pro176=) rs114347114 0.00232
NM_015158.5(KANK1):c.3609G>A (p.Ala1203=) rs114625699 0.00192
NM_015158.5(KANK1):c.1760A>G (p.Glu587Gly) rs141234076 0.00066
NM_015158.5(KANK1):c.561T>C (p.Phe187=) rs139983081 0.00036
NM_015158.5(KANK1):c.565G>A (p.Gly189Ser) rs200751333 0.00031
NM_015158.5(KANK1):c.9C>T (p.His3=) rs144137079 0.00030
NM_015158.5(KANK1):c.3554-5T>A rs76738278 0.00025
NM_015158.5(KANK1):c.2077G>A (p.Glu693Lys) rs370791961 0.00009
NM_015158.5(KANK1):c.2615C>G (p.Ser872Cys) rs148558003 0.00006
NM_015158.5(KANK1):c.817C>T (p.Arg273Cys) rs137938410 0.00006
NM_015158.5(KANK1):c.1011G>A (p.Arg337=) rs142210244 0.00005
NM_015158.5(KANK1):c.1263C>T (p.Ser421=) rs751062805 0.00004
NM_015158.5(KANK1):c.226C>T (p.Pro76Ser) rs767269190 0.00004
NM_015158.5(KANK1):c.3744C>T (p.Asp1248=) rs762794892 0.00002
NM_015158.5(KANK1):c.1697T>C (p.Met566Thr) rs370358304 0.00001
NM_015158.5(KANK1):c.2367G>A (p.Gly789=) rs1248209705 0.00001
NM_015158.5(KANK1):c.260C>A (p.Thr87Asn) rs1394287968
NM_015158.5(KANK1):c.267T>A (p.Thr89=) rs761736070
NM_015158.5(KANK1):c.3217G>C (p.Glu1073Gln)
NM_015158.5(KANK1):c.3755del (p.Gly1252fs) rs2132275588
NM_015158.5(KANK1):c.38-2535T>G
NM_015158.5(KANK1):c.38-2A>T
NM_015158.5(KANK1):c.38-3361G>A
NM_015158.5(KANK1):c.4003C>T (p.Pro1335Ser)
NM_015158.5(KANK1):c.603T>G (p.Gly201=)

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