ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, classic type by Baylor Genetics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala) rs772929903 0.00005
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn) rs1005244744 0.00004
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val) rs781756159 0.00001
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) rs777625241 0.00001
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe) rs778385867 0.00001
GRCh37/hg19 9q34.3(chr9:137496881-137648441)
NM_000093.5(COL5A1):c.1937_1946del rs2132717812
NM_000093.5(COL5A1):c.3007-14G>A rs1838163235
NM_000093.5(COL5A1):c.3196G>A (p.Gly1066Ser) rs1838247641
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg) rs1838467288
NM_000093.5(COL5A1):c.3762del (p.Gly1255fs) rs1057518653
NM_000093.5(COL5A1):c.5136+68_5136+73delinsT rs1839542247
NM_000393.5(COL5A2):c.2833G>A (p.Gly945Arg) rs1685785467
NM_000393.5(COL5A2):c.2884C>T (p.Pro962Ser)

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