ClinVar Miner

List of variants studied for Stromme syndrome by Baylor Genetics

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_016343.4(CENPF):c.3617A>G (p.Tyr1206Cys) rs144237457 0.00181
NM_016343.4(CENPF):c.4999C>T (p.Arg1667Ter) rs375014198 0.00008
NM_016343.4(CENPF):c.7352A>G (p.Asn2451Ser) rs138083875 0.00006
NM_016343.4(CENPF):c.7647A>C (p.Gln2549His) rs777730944 0.00004
NM_016343.4(CENPF):c.7307C>T (p.Ser2436Leu) rs771199196 0.00002
NM_016343.4(CENPF):c.37C>T (p.Pro13Ser) rs564086731 0.00001
NM_016343.4(CENPF):c.7000C>T (p.Leu2334Phe) rs780360553 0.00001
NM_016343.4(CENPF):c.1323+1G>A rs1657782821
NM_016343.4(CENPF):c.171_199del (p.Asn57fs) rs757575602
NM_016343.4(CENPF):c.2513C>A (p.Ser838Ter)
NM_016343.4(CENPF):c.3242A>T (p.Glu1081Val) rs1658115070
NM_016343.4(CENPF):c.3703C>T (p.Gln1235Ter)
NM_016343.4(CENPF):c.4364A>G (p.Asn1455Ser) rs376658652
NM_016343.4(CENPF):c.8159A>G (p.Gln2720Arg)
NM_016343.4(CENPF):c.8385G>A (p.Met2795Ile) rs753288669

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