ClinVar Miner

List of variants in gene KANK2 studied for nephrotic syndrome 16

Included ClinVar conditions (2):
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001136191.3(KANK2):c.10G>A (p.Val4Ile) rs139512726 0.00321
NM_001136191.3(KANK2):c.1038C>T (p.Ala346=) rs118109949 0.00162
NM_001136191.3(KANK2):c.2543C>T (p.Ser848Leu) rs146639208 0.00086
NM_001136191.3(KANK2):c.1138C>T (p.Arg380Cys) rs144821191 0.00051
NM_001136191.3(KANK2):c.1504G>A (p.Val502Met) rs147580567 0.00025
NM_001136191.3(KANK2):c.1369C>T (p.Pro457Ser) rs376385754 0.00001
NM_001136191.3(KANK2):c.541A>G (p.Ser181Gly) rs1555820663 0.00001
NM_001136191.3(KANK2):c.2027C>T (p.Ser676Phe) rs1555816634
NM_001136191.3(KANK2):c.2068G>A (p.Gly690Ser)
NM_001136191.3(KANK2):c.2282G>A (p.Cys761Tyr)
NM_001136191.3(KANK2):c.2502+15G>A rs113611112
NM_001136191.3(KANK2):c.749T>G (p.Leu250Arg)

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