ClinVar Miner

List of variants in gene ITGA3 studied for pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome

Included ClinVar conditions (1):
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_002204.4(ITGA3):c.1469+10T>C rs4793639 0.88054
NM_002204.4(ITGA3):c.2046C>T (p.Ala682=) rs11545792 0.01213
NM_002204.4(ITGA3):c.207-18C>T rs116146771 0.00290
NM_002204.4(ITGA3):c.1420G>A (p.Val474Met) rs61730081 0.00201
NM_002204.4(ITGA3):c.1290C>T (p.Phe430=) rs78768954 0.00096
NM_002204.4(ITGA3):c.2184C>T (p.His728=) rs146262123 0.00075
NM_002204.4(ITGA3):c.759G>A (p.Thr253=) rs138622747 0.00061
NM_002204.4(ITGA3):c.2707-8C>T rs377664197 0.00056
NM_002204.4(ITGA3):c.1825-15C>T rs200189464 0.00044
NM_002204.4(ITGA3):c.*48G>A rs139083066 0.00039
NM_002204.4(ITGA3):c.234C>T (p.Leu78=) rs112180126 0.00039
NM_002204.4(ITGA3):c.1537+16C>T rs368911903 0.00034
NM_002204.4(ITGA3):c.222C>T (p.Ala74=) rs201984415 0.00032
NM_002204.4(ITGA3):c.1047G>A (p.Ala349=) rs201297040 0.00018
NM_002204.4(ITGA3):c.645C>T (p.Pro215=) rs150288242 0.00011
NM_002204.4(ITGA3):c.840G>A (p.Ala280=) rs199801873 0.00009
NM_002204.4(ITGA3):c.2964C>T (p.Ala988=) rs140166180 0.00007
NM_002204.4(ITGA3):c.1766G>C (p.Arg589Pro) rs377230398 0.00006
NM_002204.4(ITGA3):c.3046-5C>T rs374371717 0.00006
NM_002204.4(ITGA3):c.3104C>T (p.Ala1035Val) rs757812706 0.00006
NM_002204.4(ITGA3):c.2233G>A (p.Asp745Asn) rs369201492 0.00004
NM_002204.4(ITGA3):c.2623C>T (p.Arg875Ter) rs200810866 0.00004
NM_002204.4(ITGA3):c.607G>A (p.Gly203Ser) rs201830820 0.00004
NM_002204.4(ITGA3):c.646G>A (p.Gly216Ser) rs772933610 0.00003
NM_002204.4(ITGA3):c.84C>T (p.Cys28=) rs982451007 0.00003
NM_002204.4(ITGA3):c.1538-4G>A rs746140749 0.00002
NM_002204.4(ITGA3):c.1387C>T (p.Arg463Trp) rs797044989 0.00001
NM_002204.4(ITGA3):c.1973C>G (p.Thr658Arg) rs540704248 0.00001
NM_002204.4(ITGA3):c.1994G>A (p.Arg665His) rs1908944600 0.00001
NM_002204.4(ITGA3):c.2400+7G>A rs371199306 0.00001
NM_002204.4(ITGA3):c.*14C>G rs187586850
NM_002204.4(ITGA3):c.1173_1174del (p.Pro392fs)
NM_002204.4(ITGA3):c.1392C>T (p.Pro464=) rs1126539
NM_002204.4(ITGA3):c.1502A>G (p.Gln501Arg)
NM_002204.4(ITGA3):c.1509C>T (p.Ala503=) rs192121420
NM_002204.4(ITGA3):c.1538-1G>A rs1567701091
NM_002204.4(ITGA3):c.1597G>A (p.Gly533Ser) rs377600580
NM_002204.4(ITGA3):c.1621G>C (p.Gly541Arg) rs775389411
NM_002204.4(ITGA3):c.1675-8C>T rs373834648
NM_002204.4(ITGA3):c.1764G>A (p.Leu588=) rs1321089081
NM_002204.4(ITGA3):c.1883G>C (p.Arg628Pro) rs140781106
NM_002204.4(ITGA3):c.2070+1G>A rs797045048
NM_002204.4(ITGA3):c.2289G>T (p.Ser763=) rs143126480
NM_002204.4(ITGA3):c.2920-8C>G rs545444575
NM_002204.4(ITGA3):c.2995G>A (p.Val999Met)

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