ClinVar Miner

List of variants studied for Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_020928.2(ZSWIM6):c.1770A>G (p.Ile590Met) rs976654292 0.00013
NM_020928.2(ZSWIM6):c.2036A>G (p.Lys679Arg) rs756583079 0.00009
NM_020928.2(ZSWIM6):c.1337C>T (p.Ala446Val) rs1046738327 0.00005
NM_020928.2(ZSWIM6):c.2738G>A (p.Arg913Gln) rs1389523495 0.00004
NM_020928.2(ZSWIM6):c.2557G>A (p.Glu853Lys) rs748121822 0.00001
NM_020928.2(ZSWIM6):c.2881A>G (p.Ser961Gly) rs745988643 0.00001
NM_020928.2(ZSWIM6):c.28C>A (p.Pro10Thr) rs1744264232 0.00001
NM_020928.2(ZSWIM6):c.3230C>T (p.Ala1077Val) rs896504353 0.00001
NC_000001.11:g.60162925_60162929del
NM_020928.2(ZSWIM6):c.1259del (p.Asp420fs) rs2479069102
NM_020928.2(ZSWIM6):c.1333+1del rs2479069540
NM_020928.2(ZSWIM6):c.1440G>A (p.Trp480Ter) rs1436800725
NM_020928.2(ZSWIM6):c.1795C>A (p.Gln599Lys) rs2112269022
NM_020928.2(ZSWIM6):c.1843C>G (p.Pro615Ala)
NM_020928.2(ZSWIM6):c.1943G>C (p.Arg648Pro) rs983495066
NM_020928.2(ZSWIM6):c.2005T>C (p.Ser669Pro) rs1404576753
NM_020928.2(ZSWIM6):c.2491G>C (p.Glu831Gln) rs2478390537
NM_020928.2(ZSWIM6):c.2710C>T (p.Arg904Ter) rs2112294273
NM_020928.2(ZSWIM6):c.2737C>T (p.Arg913Ter) rs1554041295
NM_020928.2(ZSWIM6):c.2T>C (p.Met1Thr)
NM_020928.2(ZSWIM6):c.407G>T (p.Gly136Val) rs754658198
NM_020928.2(ZSWIM6):c.676+18190A>G rs748947360
NM_020928.2(ZSWIM6):c.677-17233C>A rs2112162271

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