ClinVar Miner

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

Included ClinVar conditions (71):
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ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000302.4(PLOD1):c.77-3358C>T rs534978828 0.00153
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr) rs142476892 0.00150
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys) rs201834513 0.00081
NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met) rs142313124 0.00057
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022 0.00033
NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val) rs557361751 0.00022
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln) rs139446305 0.00021
NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys) rs372170366 0.00019
NM_001365276.2(TNXB):c.1480A>T (p.Thr494Ser) rs770149701 0.00015
NM_001365276.2(TNXB):c.5491G>A (p.Val1831Met) rs188124424 0.00013
NM_007255.3(B4GALT7):c.185G>A (p.Arg62Lys) rs373059256 0.00012
NM_000093.5(COL5A1):c.5136+73G>A rs560195385 0.00011
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010 0.00009
NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010 0.00009
NM_000090.4(COL3A1):c.1526G>A (p.Arg509His) rs568986390 0.00006
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp) rs147329970 0.00006
NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser) rs537085488 0.00006
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr) rs201996851 0.00005
NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His) rs149820303 0.00004
NM_000090.4(COL3A1):c.3462T>G (p.Ser1154Arg) rs769100283 0.00004
NM_001367624.2(ZNF469):c.3332T>C (p.Phe1111Ser) rs765069829 0.00004
NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr) rs769115550 0.00003
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser) rs749621872 0.00002
NM_000093.5(COL5A1):c.4508G>A (p.Arg1503His) rs373653069 0.00002
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357 0.00002
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys) rs755429175 0.00002
NM_001365276.2(TNXB):c.6805C>T (p.Gln2269Ter) rs749742731 0.00002
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser) rs1453508139 0.00002
NM_000088.4(COL1A1):c.862G>A (p.Glu288Lys) rs72645341 0.00001
NM_000090.4(COL3A1):c.101A>G (p.His34Arg) rs752110396 0.00001
NM_000090.4(COL3A1):c.4295G>T (p.Arg1432Leu) rs772428340 0.00001
NM_000090.4(COL3A1):c.4357G>A (p.Asp1453Asn) rs1131691353 0.00001
NM_000093.5(COL5A1):c.1074C>T (p.Gly358=) rs561440698 0.00001
NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly) rs746071518 0.00001
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg) rs1064795616 0.00001
NM_000393.5(COL5A2):c.316A>G (p.Asn106Asp) rs1449512324 0.00001
NM_001367624.2(ZNF469):c.1268C>T (p.Pro423Leu) rs1214168989 0.00001
NM_004370.6(COL12A1):c.3508G>A (p.Val1170Ile) rs201542066 0.00001
NM_014244.5(ADAMTS2):c.2226T>A (p.Phe742Leu) rs768906337 0.00001
NM_014244.5(ADAMTS2):c.2696C>T (p.Ser899Leu) rs751948505 0.00001
NM_000088.4(COL1A1):c.2845C>T (p.Pro949Ser) rs1434279534
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser) rs761672800
NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter) rs1057518075
NM_000090.4(COL3A1):c.3490G>A (p.Gly1164Arg) rs587779553
NM_000090.4(COL3A1):c.997G>C (p.Gly333Arg) rs1688217136
NM_000093.5(COL5A1):c.695C>T (p.Ala232Val) rs1834699128
NM_000393.5(COL5A2):c.4020C>A (p.Asn1340Lys) rs771310130
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
NM_001365276.2(TNXB):c.1263_1448del (p.Thr428_Gly489del) rs2127289918
NM_001365276.2(TNXB):c.2531A>G (p.Gln844Arg) rs1187997184
NM_001365276.2(TNXB):c.496A>C (p.Thr166Pro) rs2127293388
NM_001365276.2(TNXB):c.5645C>T (p.Pro1882Leu)
NM_001365276.2(TNXB):c.7338G>C (p.Lys2446Asn) rs2151907242
NM_001367624.2(ZNF469):c.8048G>A (p.Gly2683Glu) rs912981227
NM_004370.6(COL12A1):c.5194T>G (p.Ser1732Ala) rs750726658
NM_007255.3(B4GALT7):c.283C>G (p.Leu95Val) rs926913315
NM_018699.4(PRDM5):c.1208C>G (p.Pro403Arg) rs769647986
NM_130468.4(CHST14):c.1033C>T (p.Arg345Trp) rs372422727

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