ClinVar Miner

List of variants studied for Wooly hair-palmoplantar keratoderma syndrome; Nephrotic syndrome 16

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Total variants: 7
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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.2502+15G>A rs113611112

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