ClinVar Miner

List of variants studied for Microcephaly 18, primary, autosomal dominant by New York Genome Center

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_014991.6(WDFY3):c.5404C>T (p.Arg1802Trp) rs138292353 0.00003
NM_014991.6(WDFY3):c.7684T>G (p.Phe2562Val) rs1560592333 0.00001
NM_014991.6(WDFY3):c.9754C>T (p.Pro3252Ser) rs912833658 0.00001
NM_014991.6(WDFY3):c.4559T>A (p.Phe1520Tyr) rs1745325272
NM_014991.6(WDFY3):c.4828A>C (p.Asn1610His) rs2149434106
NM_014991.6(WDFY3):c.6317C>G (p.Ala2106Gly) rs2149221110
NM_014991.6(WDFY3):c.6370A>G (p.Thr2124Ala) rs2149220704
NM_014991.6(WDFY3):c.9134C>G (p.Thr3045Ser) rs1729287990
NM_014991.6(WDFY3):c.9260G>T (p.Cys3087Phe) rs1397754824
NM_014991.6(WDFY3):c.9823+1507C>T rs2148768666

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