ClinVar Miner

List of variants studied for X-linked Ehlers-Danlos syndrome

Included ClinVar conditions (3):
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Total variants: 36
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HGVS dbSNP
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) rs1569551838
NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr)
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
NM_001110556.2(FLNA):c.1829-1G>C rs1603362402
NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln) rs267606815
NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu)
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) rs80338841
NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter)
NM_001110556.2(FLNA):c.2132T>A (p.Val711Asp) rs267606817
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) rs1297013254
NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) rs1448428046
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn)
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) rs782445995
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) rs371677498
NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile)
NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys)
NM_001110556.2(FLNA):c.4265A>G (p.Tyr1422Cys)
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) rs1557177412
NM_001110556.2(FLNA):c.4403C>T (p.Pro1468Leu)
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr) rs782240483
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044
NM_001110556.2(FLNA):c.4750_4755+18del
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) rs1569551874
NM_001110556.2(FLNA):c.5021T>C (p.Val1674Ala)
NM_001110556.2(FLNA):c.546G>C (p.Gln182His) rs1557179648
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) rs782447567
NM_001110556.2(FLNA):c.622+5G>C
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) rs782400832
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) rs781984274
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg) rs267606816
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440

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