ClinVar Miner

List of variants in gene EFEMP2, MUS81 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_016938.5(EFEMP2):c.*403C>G rs77540033 0.00883
NM_016938.5(EFEMP2):c.*115G>A rs187686630 0.00223
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) rs2234473 0.00178
NM_016938.5(EFEMP2):c.*282C>T rs572394429 0.00068
NM_016938.5(EFEMP2):c.*305C>T rs886048504 0.00010
NM_016938.5(EFEMP2):c.1234G>T (p.Val412Leu) rs146879673 0.00006
NM_016938.5(EFEMP2):c.1182C>T (p.Asn394=) rs1466076983 0.00004
NM_016938.5(EFEMP2):c.1212G>A (p.Pro404=) rs148302546 0.00004
NM_016938.5(EFEMP2):c.1279C>T (p.Arg427Trp) rs1056545955 0.00004
NM_016938.5(EFEMP2):c.1306G>A (p.Val436Ile) rs774228818 0.00003
NM_016938.5(EFEMP2):c.1203C>T (p.Leu401=) rs374950957 0.00002
NM_016938.5(EFEMP2):c.*174G>A rs762945459 0.00001
NM_016938.5(EFEMP2):c.*182A>G rs1565271753 0.00001
NM_016938.5(EFEMP2):c.*247A>C rs1486449571 0.00001
NM_016938.5(EFEMP2):c.1183G>A (p.Val395Ile) rs543567156 0.00001
NM_016938.5(EFEMP2):c.1207C>A (p.Arg403=) rs765684268 0.00001
NM_016938.5(EFEMP2):c.1217C>T (p.Thr406Met) rs372299119 0.00001
NM_016938.5(EFEMP2):c.1221C>A (p.Gly407=) rs767083801 0.00001
NM_016938.5(EFEMP2):c.1225C>T (p.Arg409Trp) rs774325189 0.00001
NM_016938.5(EFEMP2):c.1226G>A (p.Arg409Gln) rs61893867 0.00001
NM_016938.5(EFEMP2):c.1305C>T (p.Thr435=) rs1260193001 0.00001
NM_016938.5(EFEMP2):c.*3A>G rs886048505
NM_016938.5(EFEMP2):c.1171-17del
NM_016938.5(EFEMP2):c.1171-19C>T rs543697634
NM_016938.5(EFEMP2):c.1171-9G>A
NM_016938.5(EFEMP2):c.1174del (p.Ile392fs) rs1591064775
NM_016938.5(EFEMP2):c.1177AAC[1] (p.Asn394del)
NM_016938.5(EFEMP2):c.1183G>C (p.Val395Leu) rs543567156
NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr) rs193302868
NM_016938.5(EFEMP2):c.1204G>A (p.Ala402Thr)
NM_016938.5(EFEMP2):c.1210C>A (p.Pro404Thr)
NM_016938.5(EFEMP2):c.1211C>T (p.Pro404Leu) rs753393039
NM_016938.5(EFEMP2):c.1218G>A (p.Thr406=)
NM_016938.5(EFEMP2):c.1218G>T (p.Thr406=)
NM_016938.5(EFEMP2):c.1220G>T (p.Gly407Val) rs1859861811
NM_016938.5(EFEMP2):c.1228G>C (p.Glu410Gln)
NM_016938.5(EFEMP2):c.1234G>A (p.Val412Met) rs146879673
NM_016938.5(EFEMP2):c.1234G>C (p.Val412Leu) rs146879673
NM_016938.5(EFEMP2):c.1236G>A (p.Val412=)
NM_016938.5(EFEMP2):c.1248G>A (p.Glu416=)
NM_016938.5(EFEMP2):c.1283C>T (p.Ala428Val) rs1565272014
NM_016938.5(EFEMP2):c.1302C>T (p.Leu434=)
NM_016938.5(EFEMP2):c.1305C>G (p.Thr435=) rs1260193001
NM_016938.5(EFEMP2):c.1311T>G (p.Phe437Leu) rs1591064625
NM_016938.5(EFEMP2):c.1325C>A (p.Thr442Asn)

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