ClinVar Miner

List of variants in gene KIF7 studied for Hydrolethalus syndrome 2

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_198525.3(KIF7):c.1788+13T>C rs1110060 0.59982
NM_198525.3(KIF7):c.3112-11_3112-10insCT rs35820949 0.57089
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_198525.3(KIF7):c.2896-14G>A rs9672296 0.53577
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.20556
NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp) rs142598777 0.00022
NM_198525.3(KIF7):c.208G>A (p.Val70Met) rs761934745 0.00016
NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp) rs367734857 0.00006
NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs) rs752248403 0.00006
NM_198525.3(KIF7):c.1561-1G>A rs763238645 0.00001
NM_198525.3(KIF7):c.2896-18T>A rs528968559 0.00001
NM_198525.3(KIF7):c.2978G>A (p.Arg993Gln) rs746107537 0.00001
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066

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