ClinVar Miner

List of variants reported as benign for ZTTK syndrome by Genome-Nilou Lab

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_138927.4(SON):c.7236dup (p.Ala2413fs) rs34377180 0.99998
NM_138927.4(SON):c.7248del (p.Arg2416fs) rs34373121 0.99997
NM_138927.4(SON):c.3605C>T (p.Ser1202Leu) rs13433428 0.99978
NM_138927.4(SON):c.4723C>T (p.Arg1575Cys) rs13047599 0.70679
NM_138927.4(SON):c.6993T>C (p.Asn2331=) rs3174808 0.30037
NM_138927.4(SON):c.6161-40T>C rs2070389 0.22685
NM_138927.4(SON):c.2706T>C (p.Asp902=) rs16990760 0.21862
NM_138927.4(SON):c.4152G>A (p.Leu1384=) rs61739710 0.21234
NM_138927.4(SON):c.5868CAGCCGCACCCCCAGCCGCCG[3] (p.1957SRTPSRR[5]) rs1462103775

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