ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by GenomeConnect, ClinGen

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_000088.3(COL1A1):c.2845C>T (p.Pro949Ser) rs1434279534
NM_000089.3(COL1A2):c.594+5A>T rs200744314
NM_000090.3(COL3A1):c.101A>G (p.His34Arg) rs752110396
NM_000090.3(COL3A1):c.1471C>T (p.Arg491Ter) rs1057518075
NM_000090.3(COL3A1):c.3462T>G (p.Ser1154Arg) rs769100283
NM_000090.3(COL3A1):c.3490G>A (p.Gly1164Arg) rs587779553
NM_000090.3(COL3A1):c.4357G>A (p.Asp1453Asn) rs1131691353
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000093.4(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010
NM_000093.4(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_000093.4(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010
NM_000093.4(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357
NM_000393.5(COL5A2):c.316A>G (p.Asn106Asp) rs1449512324
NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys) rs372170366
NM_001110556.2(FLNA):c.1267C>T (p.Pro423Ser) rs863223643
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln) rs371707134
NM_001127464.1:c.1268C>T
NM_001127464.1:c.5695C>T
NM_001278074.1(COL5A1):c.5077G>A (p.Ala1693Thr) rs560195385
NM_001365276.2(TNXB):c.2531A>G (p.Gln844Arg) rs1187997184
NM_007255.3(B4GALT7):c.185G>A (p.Arg62Lys)
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr) rs142476892
NM_007255.3(B4GALT7):c.283C>G (p.Leu95Val)
NM_130468.3(CHST14):c.1033C>T (p.Arg345Trp) rs372422727

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