ClinVar Miner

List of variants in gene SLC39A13 reported as uncertain significance for Ehlers-Danlos syndrome

Included ClinVar conditions (43):
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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_001128225.3(SLC39A13):c.1000G>A (p.Val334Met) rs1595887083
NM_001128225.3(SLC39A13):c.1094T>C (p.Leu365Pro)
NM_001128225.3(SLC39A13):c.1108G>A (p.Val370Met)
NM_001128225.3(SLC39A13):c.118C>T (p.Arg40Trp) rs368796707
NM_001128225.3(SLC39A13):c.134C>T (p.Ala45Val)
NM_001128225.3(SLC39A13):c.139C>T (p.Arg47Cys) rs766701277
NM_001128225.3(SLC39A13):c.149A>G (p.Asn50Ser)
NM_001128225.3(SLC39A13):c.185G>C (p.Gly62Ala) rs1565660438
NM_001128225.3(SLC39A13):c.255_269del (p.Leu87_Leu91del)
NM_001128225.3(SLC39A13):c.265A>G (p.Ile89Val) rs754729494
NM_001128225.3(SLC39A13):c.284C>T (p.Thr95Ile) rs1317018795
NM_001128225.3(SLC39A13):c.301+5G>A
NM_001128225.3(SLC39A13):c.302-3T>C rs371414744
NM_001128225.3(SLC39A13):c.35C>T (p.Ala12Val) rs556023069
NM_001128225.3(SLC39A13):c.403A>G (p.Ser135Gly) rs377518253
NM_001128225.3(SLC39A13):c.487C>G (p.Leu163Val)
NM_001128225.3(SLC39A13):c.571G>A (p.Ala191Thr) rs138998777
NM_001128225.3(SLC39A13):c.578A>G (p.Asn193Ser)
NM_001128225.3(SLC39A13):c.635G>A (p.Arg212Gln) rs200490683
NM_001128225.3(SLC39A13):c.640A>G (p.Ile214Val) rs750123189
NM_001128225.3(SLC39A13):c.736A>G (p.Ile246Val) rs767784704
NM_001128225.3(SLC39A13):c.767T>C (p.Leu256Pro) rs924156969
NM_001128225.3(SLC39A13):c.786+6C>T rs779162662
NM_001128225.3(SLC39A13):c.833G>C (p.Ser278Thr)
NM_001128225.3(SLC39A13):c.95G>T (p.Gly32Val)
NM_001128225.3(SLC39A13):c.991A>G (p.Ile331Val) rs1407619087

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