ClinVar Miner

List of variants reported for Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.7286C>T (p.Pro2429Leu) rs2229822 0.00472
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_000094.4(COL7A1):c.4613G>A (p.Arg1538His) rs2229824 0.00408
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys) rs2228563 0.00287
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser) rs35623035 0.00285
NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys) rs147633212 0.00050
NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys) rs144557024 0.00034
NM_000094.4(COL7A1):c.8780G>A (p.Arg2927His) rs150903058 0.00021
NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr) rs149342284 0.00019
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000094.4(COL7A1):c.4889G>A (p.Arg1630Gln) rs201196696 0.00011
NM_000094.4(COL7A1):c.2969G>A (p.Arg990Gln) rs568498471 0.00010
NM_000094.4(COL7A1):c.4978C>T (p.Arg1660Trp) rs147285396 0.00010
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=) rs200972872 0.00010
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) rs121912856 0.00009
NM_000094.4(COL7A1):c.1268C>T (p.Pro423Leu) rs147947287 0.00007
NM_000094.4(COL7A1):c.4000C>T (p.Arg1334Cys) rs141720633 0.00007
NM_000094.4(COL7A1):c.3566T>C (p.Met1189Thr) rs371470848 0.00006
NM_000094.4(COL7A1):c.6021C>A (p.Asp2007Glu) rs199603961 0.00006
NM_000094.4(COL7A1):c.7036C>T (p.Arg2346Cys) rs145729761 0.00006
NM_000094.4(COL7A1):c.7344G>A (p.Val2448=) rs201728948 0.00006
NM_000094.4(COL7A1):c.3203G>A (p.Arg1068His) rs753761607 0.00004
NM_000094.4(COL7A1):c.4445G>A (p.Arg1482Gln) rs570707807 0.00004
NM_000094.4(COL7A1):c.4561G>C (p.Glu1521Gln) rs373745858 0.00004
NM_000094.4(COL7A1):c.5929C>T (p.Arg1977Cys) rs765130674 0.00004
NM_000094.4(COL7A1):c.5499C>T (p.Gly1833=) rs758886532 0.00003
NM_000094.4(COL7A1):c.6261C>A (p.Pro2087=) rs761393259 0.00003
NM_000094.4(COL7A1):c.8289C>T (p.Gly2763=) rs763764765 0.00003
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803 0.00002
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=) rs773201784 0.00002
NM_000094.4(COL7A1):c.3602G>A (p.Arg1201His) rs189206728 0.00002
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter) rs761927109 0.00002
NM_000094.4(COL7A1):c.5951C>T (p.Ser1984Leu) rs200551525 0.00002
NM_000094.4(COL7A1):c.7104+1G>A rs772756089 0.00002
NM_000094.4(COL7A1):c.1573C>T (p.Arg525Ter) rs368007918 0.00001
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter) rs780261665 0.00001
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=) rs549271654 0.00001
NM_000094.4(COL7A1):c.302G>T (p.Gly101Val) rs973642161 0.00001
NM_000094.4(COL7A1):c.4027C>T (p.Arg1343Ter) rs761234904 0.00001
NM_000094.4(COL7A1):c.4162C>T (p.Arg1388Cys) rs565472139 0.00001
NM_000094.4(COL7A1):c.4278G>A (p.Pro1426=) rs749738987 0.00001
NM_000094.4(COL7A1):c.4894C>T (p.Arg1632Ter) rs751535193 0.00001
NM_000094.4(COL7A1):c.565C>T (p.Gln189Ter) rs1486141784 0.00001
NM_000094.4(COL7A1):c.5701G>A (p.Gly1901Ser) rs762189891 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000094.4(COL7A1):c.7334C>T (p.Pro2445Leu) rs750113696 0.00001
NM_000094.4(COL7A1):c.8457T>C (p.Tyr2819=) rs751768659 0.00001
NM_000094.4(COL7A1):c.1215C>T (p.Pro405=) rs200882719
NM_000094.4(COL7A1):c.1637-1G>A rs886058642
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs) rs746056280
NM_000094.4(COL7A1):c.2548G>A (p.Asp850Asn) rs538387822
NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His) rs570498790
NM_000094.4(COL7A1):c.3636del (p.Phe1213fs) rs2107746826
NM_000094.4(COL7A1):c.3826C>T (p.Leu1276Phe) rs2045195228
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg) rs1156352791
NM_000094.4(COL7A1):c.409C>T (p.Arg137Ter) rs1203706188
NM_000094.4(COL7A1):c.4414C>A (p.Pro1472Thr) rs775987562
NM_000094.4(COL7A1):c.4552A>G (p.Lys1518Glu) rs2107720058
NM_000094.4(COL7A1):c.4568del (p.Pro1523fs) rs778165989
NM_000094.4(COL7A1):c.4965C>T (p.Gly1655=) rs1560232515
NM_000094.4(COL7A1):c.5720_5721delinsAT (p.Gly1907Asp) rs1057517725
NM_000094.4(COL7A1):c.58_70del (p.Arg20fs) rs2045987838
NM_000094.4(COL7A1):c.6082G>A (p.Gly2028Arg) rs762162799
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs) rs768128088
NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=) rs34360255
NM_000094.4(COL7A1):c.7787del (p.Gly2596fs) rs759990189
NM_000094.4(COL7A1):c.8278G>A (p.Gly2760Arg) rs1064797081
NM_000094.4(COL7A1):c.8304+1G>A rs759579761

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