ClinVar Miner

List of variants in gene ECM1 studied for dermis disorder

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_004425.4(ECM1):c.1243G>A (p.Gly415Ser) rs13294 0.33313
NM_004425.4(ECM1):c.389C>T (p.Thr130Met) rs3737240 0.29423
NM_004425.4(ECM1):c.792G>A (p.Glu264=) rs78194273 0.01478
NM_004425.4(ECM1):c.366C>T (p.His122=) rs74352693 0.01468
NM_004425.4(ECM1):c.1100A>T (p.Asp367Val) rs151102225 0.00732
NM_004425.4(ECM1):c.1083+10C>T rs55770822 0.00336
NM_004425.4(ECM1):c.1019del (p.Gln340fs) rs778473713 0.00004
NM_004425.4(ECM1):c.122-3T>G rs375534923 0.00004
NM_004425.4(ECM1):c.499T>A (p.Phe167Ile) rs121909116 0.00004
NM_004425.4(ECM1):c.157C>T (p.Arg53Ter) rs121909115 0.00002
NM_004425.4(ECM1):c.1036C>T (p.Gln346Ter) rs121909114 0.00001
NM_004425.4(ECM1):c.507del (p.Arg171fs) rs869025565 0.00001
NM_004425.4(ECM1):c.1209_1210insTAGGAAGCCAATTGATATCATAGCTCAGACCATACCTATGTATCCAAATGGTTCTTTTTTTCC (p.Asn404Ter) rs2101440055
NM_004425.4(ECM1):c.1246C>T (p.Arg416Ter)
NM_004425.4(ECM1):c.1287_1288del (p.Arg430fs) rs2101440353
NM_004425.4(ECM1):c.1304+35_*302del
NM_004425.4(ECM1):c.1393-1G>T rs1560267428
NM_004425.4(ECM1):c.142del (p.Ser48fs) rs1670380730
NM_004425.4(ECM1):c.1450_1454del (p.Ala484fs)
NM_004425.4(ECM1):c.233del (p.Pro78fs) rs768474010
NM_004425.4(ECM1):c.480G>A (p.Trp160Ter) rs1560265435
NM_004425.4(ECM1):c.505C>G (p.Pro169Ala) rs41264471
NM_004425.4(ECM1):c.506dup (p.Gly170fs) rs869025564
NM_004425.4(ECM1):c.542_543insAACCAAATCTGAA (p.Cys181Ter)
NM_004425.4(ECM1):c.658T>G (p.Cys220Gly) rs869025566
NM_004425.4(ECM1):c.727C>T (p.Arg243Ter) rs746217361
NM_004425.4(ECM1):c.742G>T (p.Glu248Ter) rs369508778
NM_004425.4(ECM1):c.806G>A (p.Cys269Tyr) rs756977475
NM_004425.4(ECM1):c.826C>T (p.Gln276Ter) rs869025563
NM_004425.4(ECM1):c.93_94delinsTT (p.Arg31_Gln32delinsSerTer) rs869025567

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