ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001376571.1(MADD):c.1330A>G (p.Asn444Asp) rs61751747 0.00444
NM_001376571.1(MADD):c.1792A>G (p.Asn598Asp) rs138087178 0.00195
NM_001376571.1(MADD):c.417C>G (p.Gly139=) rs138027707 0.00095
NM_001376571.1(MADD):c.979C>T (p.Arg327Ter) rs147179561 0.00004
NM_001376571.1(MADD):c.2096G>A (p.Arg699His) rs751993844 0.00002
NM_001376571.1(MADD):c.994C>T (p.Leu332Phe) rs1402413143 0.00001
NM_001376571.1(MADD):c.1037T>C (p.Leu346Pro) rs1591767154
NM_001376571.1(MADD):c.1113C>T (p.Thr371=)
NM_001376571.1(MADD):c.144G>A (p.Leu48=)
NM_001376571.1(MADD):c.1854T>G (p.Thr618=)
NM_001376571.1(MADD):c.2106T>G (p.Ser702=)
NM_001376571.1(MADD):c.2241C>T (p.Gly747=)
NM_001376571.1(MADD):c.2411G>A (p.Arg804Gln) rs376589140
NM_001376571.1(MADD):c.2955C>A (p.Arg985=)
NM_001376571.1(MADD):c.3084C>T (p.His1028=)
NM_001376571.1(MADD):c.3760-2A>C rs1555081426
NM_001376571.1(MADD):c.4293G>A (p.Trp1431Ter) rs1064797155
NM_001376571.1(MADD):c.4383C>T (p.Cys1461=)
NM_001376571.1(MADD):c.4932G>A (p.Pro1644=)
NM_001376571.1(MADD):c.780C>T (p.Pro260=)

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