ClinVar Miner

List of variants in gene CTSC reported as pathogenic for Haim-Munk syndrome

Included ClinVar conditions (2):
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys) rs104894211 0.00001
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg) rs104894208 0.00001
NC_000011.9:g.(?_88045475)_(88071056_?)del
NM_001814.6(CTSC):c.1015C>T (p.Arg339Cys)
NM_001814.6(CTSC):c.1047del (p.Gly350fs)
NM_001814.6(CTSC):c.1096del (p.His366fs)
NM_001814.6(CTSC):c.1122del (p.Phe374fs)
NM_001814.6(CTSC):c.1141del (p.Leu381fs) rs772132996
NM_001814.6(CTSC):c.1149del (p.His382_Tyr383insTer)
NM_001814.6(CTSC):c.1202_1214del (p.Glu401fs)
NM_001814.6(CTSC):c.1246_1247del (p.Ala417fs)
NM_001814.6(CTSC):c.1286G>A (p.Trp429Ter)
NM_001814.6(CTSC):c.189del (p.Lys63_Val64insTer)
NM_001814.6(CTSC):c.189dup (p.Val64fs)
NM_001814.6(CTSC):c.201C>A (p.Tyr67Ter)
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg) rs199474831
NM_001814.6(CTSC):c.268C>T (p.Gln90Ter)
NM_001814.6(CTSC):c.303G>A (p.Trp101Ter)
NM_001814.6(CTSC):c.319-1G>A
NM_001814.6(CTSC):c.328G>T (p.Glu110Ter)
NM_001814.6(CTSC):c.351C>G (p.Tyr117Ter)
NM_001814.6(CTSC):c.401G>A (p.Trp134Ter)
NM_001814.6(CTSC):c.407del (p.Cys136fs)
NM_001814.6(CTSC):c.415G>A (p.Gly139Arg)
NM_001814.6(CTSC):c.415G>C (p.Gly139Arg)
NM_001814.6(CTSC):c.415G>T (p.Gly139Ter)
NM_001814.6(CTSC):c.436del (p.Ser146fs)
NM_001814.6(CTSC):c.478C>T (p.Gln160Ter)
NM_001814.6(CTSC):c.509dup (p.Tyr170Ter)
NM_001814.6(CTSC):c.555G>A (p.Trp185Ter)
NM_001814.6(CTSC):c.555dup (p.Thr186fs)
NM_001814.6(CTSC):c.566_572del (p.Thr189fs)
NM_001814.6(CTSC):c.570C>G (p.Tyr190Ter)
NM_001814.6(CTSC):c.586_587del (p.Leu196fs)
NM_001814.6(CTSC):c.587T>C (p.Leu196Pro)
NM_001814.6(CTSC):c.606dup (p.Arg203Ter)
NM_001814.6(CTSC):c.628C>T (p.Arg210Ter)
NM_001814.6(CTSC):c.672dup (p.Gln225fs)
NM_001814.6(CTSC):c.706del (p.Asp236fs)
NM_001814.6(CTSC):c.725del (p.Gly242fs)
NM_001814.6(CTSC):c.748C>T (p.Arg250Ter)
NM_001814.6(CTSC):c.754C>T (p.Gln252Ter)
NM_001814.6(CTSC):c.783del (p.Phe261fs)
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro) rs587777534
NM_001814.6(CTSC):c.856C>T (p.Gln286Ter)
NM_001814.6(CTSC):c.857del (p.Gln286fs)
NM_001814.6(CTSC):c.877C>T (p.Gln293Ter)
NM_001814.6(CTSC):c.889+1G>A
NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)
NM_001814.6(CTSC):c.930C>G (p.Tyr310Ter)

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