ClinVar Miner

List of variants reported as uncertain significance for Epidermolysis bullosa dystrophica by Natera, Inc.

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ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=) rs61729223 0.01181
NM_000094.4(COL7A1):c.5259C>T (p.Pro1753=) rs151261530 0.00267
NM_000094.4(COL7A1):c.1613G>A (p.Arg538His) rs138791004 0.00138
NM_000094.4(COL7A1):c.2010C>T (p.Gly670=) rs74861804 0.00068
NM_000094.4(COL7A1):c.6279+4A>T rs370622769 0.00048
NM_000094.4(COL7A1):c.3140-4A>T rs201656230 0.00045
NM_000094.4(COL7A1):c.1411T>C (p.Leu471=) rs139564795 0.00039
NM_000094.4(COL7A1):c.4120-9C>A rs199914077 0.00038
NM_000094.4(COL7A1):c.2997G>A (p.Val999=) rs369633742 0.00023
NM_000094.4(COL7A1):c.8240C>T (p.Pro2747Leu) rs139566877 0.00023
NM_000094.4(COL7A1):c.2146A>G (p.Arg716Gly) rs143040168 0.00018
NM_000094.4(COL7A1):c.7422T>C (p.Arg2474=) rs146250538 0.00018
NM_000094.4(COL7A1):c.7615-6A>T rs777157837 0.00015
NM_000094.4(COL7A1):c.7510C>T (p.Arg2504Cys) rs201897441 0.00014
NM_000094.4(COL7A1):c.5271+8A>G rs369192298 0.00012
NM_000094.4(COL7A1):c.4923C>T (p.Asp1641=) rs202165842 0.00010
NM_000094.4(COL7A1):c.543G>A (p.Glu181=) rs372458548 0.00010
NM_000094.4(COL7A1):c.2742C>T (p.Pro914=) rs140193653 0.00009
NM_000094.4(COL7A1):c.8037C>T (p.Ile2679=) rs112974441 0.00009
NM_000094.4(COL7A1):c.5548C>T (p.Pro1850Ser) rs761604061 0.00008
NM_000094.4(COL7A1):c.1721G>A (p.Arg574Gln) rs201557549 0.00006
NM_000094.4(COL7A1):c.2666C>T (p.Pro889Leu) rs146783561 0.00006
NM_000094.4(COL7A1):c.7048C>T (p.Pro2350Ser) rs749870307 0.00006
NM_000094.4(COL7A1):c.1062T>C (p.Thr354=) rs201697063 0.00005
NM_000094.4(COL7A1):c.1345C>T (p.Arg449Trp) rs371991224 0.00005
NM_000094.4(COL7A1):c.1402C>T (p.Arg468Cys) rs371154736 0.00005
NM_000094.4(COL7A1):c.4210G>A (p.Asp1404Asn) rs146659822 0.00005
NM_000094.4(COL7A1):c.663C>T (p.Gly221=) rs367607652 0.00005
NM_000094.4(COL7A1):c.2503G>A (p.Glu835Lys) rs748398314 0.00004
NM_000094.4(COL7A1):c.3203G>A (p.Arg1068His) rs753761607 0.00004
NM_000094.4(COL7A1):c.3932G>C (p.Gly1311Ala) rs746075630 0.00004
NM_000094.4(COL7A1):c.8000C>T (p.Pro2667Leu) rs377015274 0.00004
NM_000094.4(COL7A1):c.8177C>T (p.Pro2726Leu) rs372495014 0.00004
NM_000094.4(COL7A1):c.1370C>T (p.Pro457Leu) rs200396882 0.00003
NM_000094.4(COL7A1):c.1507+10C>T rs537188035 0.00003
NM_000094.4(COL7A1):c.2545G>A (p.Gly849Arg) rs367797946 0.00003
NM_000094.4(COL7A1):c.3750T>C (p.Tyr1250=) rs558659528 0.00003
NM_000094.4(COL7A1):c.5772+10C>T rs368195728 0.00003
NM_000094.4(COL7A1):c.6216+9C>T rs200855943 0.00003
NM_000094.4(COL7A1):c.6497A>G (p.Lys2166Arg) rs756368901 0.00003
NM_000094.4(COL7A1):c.6723G>A (p.Gln2241=) rs775756645 0.00003
NM_000094.4(COL7A1):c.1860C>T (p.Pro620=) rs369313576 0.00002
NM_000094.4(COL7A1):c.3469G>A (p.Val1157Ile) rs750102430 0.00002
NM_000094.4(COL7A1):c.4518+7C>T rs377114408 0.00002
NM_000094.4(COL7A1):c.5427G>A (p.Gly1809=) rs770678998 0.00002
NM_000094.4(COL7A1):c.1681G>A (p.Asp561Asn) rs1320589494 0.00001
NM_000094.4(COL7A1):c.3673G>C (p.Ala1225Pro) rs199679997 0.00001
NM_000094.4(COL7A1):c.4782+3G>A rs373084149 0.00001
NM_000094.4(COL7A1):c.6456G>A (p.Pro2152=) rs746447568 0.00001
NM_000094.4(COL7A1):c.6501+8G>T rs201392891 0.00001
NM_000094.4(COL7A1):c.6649C>T (p.Arg2217Trp) rs546653276 0.00001
NM_000094.4(COL7A1):c.6717T>G (p.Gly2239=) rs1425057780 0.00001
NM_000094.4(COL7A1):c.8167C>T (p.Pro2723Ser) rs774540354 0.00001
NM_000094.4(COL7A1):c.951G>A (p.Glu317=) rs1482481603 0.00001
NM_000094.4(COL7A1):c.2791C>A (p.Arg931Ser) rs143979792
NM_000094.4(COL7A1):c.4519-3C>T rs2044853178
NM_000094.4(COL7A1):c.5414C>T (p.Pro1805Leu) rs1391386241
NM_000094.4(COL7A1):c.6937-10C>A rs369674282
NM_000094.4(COL7A1):c.8407+10G>T rs754593655

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