ClinVar Miner

List of variants in gene DHCR7 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001360.3(DHCR7):c.*119G>A rs151230950 0.01111
NM_001360.3(DHCR7):c.-195G>T rs141057811 0.00755
NM_001360.3(DHCR7):c.*226C>T rs185557595 0.00672
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) rs144562471 0.00054
NM_001360.3(DHCR7):c.927C>A (p.Gly309=) rs149974099 0.00032
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser) rs148609143 0.00019
NM_001360.3(DHCR7):c.729C>T (p.Pro243=) rs145284180 0.00019
NM_001360.3(DHCR7):c.765C>T (p.Phe255=) rs200132007 0.00011
NM_001360.3(DHCR7):c.735C>T (p.Ile245=) rs12800 0.00009
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001360.3(DHCR7):c.288C>T (p.Ala96=) rs745595242 0.00005
NM_001360.3(DHCR7):c.147C>T (p.Phe49=) rs771419549 0.00004
NM_001360.3(DHCR7):c.159C>T (p.Ile53=) rs752952700 0.00004
NM_001360.3(DHCR7):c.507G>A (p.Ser169=) rs138185442 0.00002
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646 0.00001
NM_001360.3(DHCR7):c.1211G>A (p.Arg404His) rs1949268223
NM_001360.3(DHCR7):c.1254C>T (p.Tyr418=) rs1949267339
NM_001360.3(DHCR7):c.1270G>A (p.Gly424Ser) rs368150818
NM_001360.3(DHCR7):c.1349_1350delinsTG (p.Arg450Leu) rs1591107040
NM_001360.3(DHCR7):c.1350C>G (p.Arg450=)
NM_001360.3(DHCR7):c.1380G>A (p.Glu460=)
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.3(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001360.3(DHCR7):c.963+30G>A
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.964-1G>T rs138659167

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