ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome by Anophthalmia/Microphthalmia Research Registry, Einstein Medical Center Philadelphia

Included ClinVar conditions (870):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 3q26.33(chr3:180102701-181991155)x1
GRCh37/hg19 3q26.33(chr3:180913778-181432287)x1
GRCh37/hg19 3q26.33-27.1(chr3:180834336-183551661)x1
GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1
GRCh37/hg19 3q27.1(chr3:182871341-182987855)x1
GRCh37/hg19 3q27.1(chr3:182902731-182945128)x1
NM_003106.4(SOX2):c.-13_43del (p.Met1fs) rs1714831656
NM_003106.4(SOX2):c.131C>G (p.Pro44Arg) rs1714842576
NM_003106.4(SOX2):c.166C>G (p.Arg56Gly) rs1560264293
NM_003106.4(SOX2):c.16G>T (p.Glu6Ter) rs1273721978
NM_003106.4(SOX2):c.310G>T (p.Glu104Ter) rs1260218988
NM_003106.4(SOX2):c.402del (p.Gly135fs) rs761248518
NM_003106.4(SOX2):c.486_487dup (p.Met163fs) rs1714858949
NM_003106.4(SOX2):c.538_542dup (p.Gln182fs) rs1714861042
NM_003106.4(SOX2):c.542del (p.Pro181fs) rs1714861435
NM_003106.4(SOX2):c.582_583delinsTT (p.Met194_Gln195delinsIleTer) rs1714864777
NM_003106.4(SOX2):c.58GGC[5] (p.Gly23dup) rs1560264163
NM_003106.4(SOX2):c.58_59delinsT (p.Gly20fs) rs1714837282
NM_003106.4(SOX2):c.59del (p.Gly20fs) rs398122803
NM_003106.4(SOX2):c.600C>G (p.Tyr200Ter) rs1714865486
NM_003106.4(SOX2):c.828del (p.Met276fs) rs1714875635
NM_003106.4(SOX2):c.859G>C (p.Ala287Pro) rs760688357
NM_003106.4(SOX2):c.921_930del (p.Ile308fs) rs1714882477
NM_003106.4(SOX2):c.941del (p.Leu314fs) rs1714883776
NM_003106.4(SOX2):c.943_944del (p.Ser315fs) rs1714883683
t(3;11)(q27;p11.2)

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