ClinVar Miner

List of variants in gene SIX3 reported as likely benign for holoprosencephaly 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_005413.4(SIX3):c.824T>C (p.Ile275Thr) rs377320521 0.00047
NM_005413.4(SIX3):c.96C>T (p.Ser32=) rs202214767 0.00042
NM_005413.4(SIX3):c.947C>T (p.Thr316Ile) rs201922529 0.00030
NM_005413.4(SIX3):c.831G>A (p.Pro277=) rs370941478 0.00022
NM_005413.4(SIX3):c.363G>T (p.Ala121=) rs376519917 0.00009
NM_005413.4(SIX3):c.168C>T (p.Gly56=) rs760535753 0.00004
NM_005413.4(SIX3):c.807-7C>T rs758201999 0.00004
NM_005413.4(SIX3):c.387G>A (p.Glu129=) rs1164238885 0.00003
NM_005413.4(SIX3):c.216C>T (p.Ala72=) rs746201264 0.00001
NM_005413.4(SIX3):c.573C>T (p.Tyr191=) rs754178703 0.00001
NM_005413.4(SIX3):c.664C>A (p.Arg222=) rs748952099 0.00001
NM_005413.4(SIX3):c.786C>A (p.Arg262=) rs778895549 0.00001
NM_005413.4(SIX3):c.891G>T (p.Pro297=) rs956722583 0.00001
NM_005413.4(SIX3):c.108C>T (p.Asn36=) rs1572623734
NM_005413.4(SIX3):c.120C>A (p.Gly40=) rs2103641137
NM_005413.4(SIX3):c.162G>A (p.Ala54=)
NM_005413.4(SIX3):c.171C>T (p.Gly57=)
NM_005413.4(SIX3):c.244C>T (p.Leu82=)
NM_005413.4(SIX3):c.246G>T (p.Leu82=)
NM_005413.4(SIX3):c.264G>A (p.Ser88=) rs2103641613
NM_005413.4(SIX3):c.294G>T (p.Thr98=)
NM_005413.4(SIX3):c.342G>T (p.Ser114=)
NM_005413.4(SIX3):c.396G>A (p.Leu132=)
NM_005413.4(SIX3):c.39C>T (p.His13=)
NM_005413.4(SIX3):c.414C>T (p.Val138=)
NM_005413.4(SIX3):c.438C>T (p.Arg146=)
NM_005413.4(SIX3):c.465C>T (p.His155=)
NM_005413.4(SIX3):c.48G>A (p.Leu16=)
NM_005413.4(SIX3):c.552A>G (p.Pro184=)
NM_005413.4(SIX3):c.57C>T (p.Phe19=)
NM_005413.4(SIX3):c.582C>T (p.Arg194=)
NM_005413.4(SIX3):c.588G>A (p.Lys196=)
NM_005413.4(SIX3):c.591C>T (p.Phe197=)
NM_005413.4(SIX3):c.60C>A (p.Ala20=)
NM_005413.4(SIX3):c.630G>A (p.Thr210=)
NM_005413.4(SIX3):c.630G>T (p.Thr210=)
NM_005413.4(SIX3):c.657C>T (p.Ser219=) rs1666606463
NM_005413.4(SIX3):c.678A>G (p.Leu226=)
NM_005413.4(SIX3):c.6A>C (p.Val2=)
NM_005413.4(SIX3):c.714A>G (p.Glu238=) rs2103642488
NM_005413.4(SIX3):c.789C>A (p.Ala263=) rs747936516
NM_005413.4(SIX3):c.807-15C>G
NM_005413.4(SIX3):c.807-6C>T
NM_005413.4(SIX3):c.831G>C (p.Pro277=) rs370941478
NM_005413.4(SIX3):c.843C>A (p.Arg281=) rs1478418886
NM_005413.4(SIX3):c.882A>G (p.Ala294=) rs2103645485
NM_005413.4(SIX3):c.912C>T (p.Thr304=)
NM_005413.4(SIX3):c.933G>A (p.Thr311=)

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