ClinVar Miner

List of variants reported as likely pathogenic for Ehlers-Danlos syndrome, kyphoscoliotic type 1

Included ClinVar conditions (1):
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551 0.00003
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_000302.4(PLOD1):c.1471-2A>G rs1401035675 0.00001
NC_000001.10:g.(?_12022996)_(12026348_?)del
NM_000302.3(PLOD1):c.[136C>T];[2075C>T]
NM_000302.4(PLOD1):c.1097+1G>A rs1389548210
NM_000302.4(PLOD1):c.1097+1G>C
NM_000302.4(PLOD1):c.1107_1114dup (p.Asp372fs)
NM_000302.4(PLOD1):c.1202+1G>A
NM_000302.4(PLOD1):c.1202+2T>C
NM_000302.4(PLOD1):c.1328+1G>A
NM_000302.4(PLOD1):c.1329-1G>T rs112460511
NM_000302.4(PLOD1):c.1470+2T>C rs886043927
NM_000302.4(PLOD1):c.1584+1G>A rs746930362
NM_000302.4(PLOD1):c.1584+1G>T
NM_000302.4(PLOD1):c.1585-2A>G
NM_000302.4(PLOD1):c.168+1G>T
NM_000302.4(PLOD1):c.1756-1_1767dup
NM_000302.4(PLOD1):c.1839_1902+64del rs2100764790
NM_000302.4(PLOD1):c.1903-2A>G rs1553137486
NM_000302.4(PLOD1):c.1903-2A>T
NM_000302.4(PLOD1):c.1999G>A (p.Ala667Thr)
NM_000302.4(PLOD1):c.254T>C (p.Leu85Pro)
NM_000302.4(PLOD1):c.467-2A>G
NM_000302.4(PLOD1):c.580-2A>G
NM_000302.4(PLOD1):c.644-2A>G
NM_000302.4(PLOD1):c.975+2_975+3insTT
NM_000302.4(PLOD1):c.976-2A>G
NM_000302.4(PLOD1):c.976-2A>T rs1375808651

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