ClinVar Miner

List of variants in gene KCNJ11 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His) rs5217 0.00131
NM_000525.4(KCNJ11):c.27C>T (p.Pro9=) rs374134161 0.00034
NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr) rs77131926 0.00020
NM_000525.4(KCNJ11):c.302C>A (p.Ala101Asp) rs1014454531 0.00011
NM_000525.4(KCNJ11):c.941G>A (p.Arg314His) rs145935651 0.00011
NM_000525.4(KCNJ11):c.-54C>T rs1016780684 0.00010
NM_000525.4(KCNJ11):c.186G>A (p.Thr62=) rs748877741 0.00009
NM_000525.4(KCNJ11):c.1117G>A (p.Val373Met) rs770375846 0.00008
NM_000525.4(KCNJ11):c.894C>T (p.Thr298=) rs933392379 0.00005
NM_000525.4(KCNJ11):c.-6G>A rs554874150 0.00004
NM_000525.4(KCNJ11):c.80G>A (p.Arg27His) rs774714794 0.00004
NM_000525.4(KCNJ11):c.1093C>T (p.Arg365Cys) rs758749160 0.00003
NM_000525.4(KCNJ11):c.1112G>A (p.Arg371His) rs1233061680 0.00003
NM_000525.4(KCNJ11):c.575G>A (p.Arg192His) rs750778014 0.00003
NM_000525.4(KCNJ11):c.853G>A (p.Val285Ile) rs149667199 0.00003
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 0.00002
NM_000525.4(KCNJ11):c.285C>T (p.Phe95=) rs774849547 0.00002
NM_000525.4(KCNJ11):c.292G>A (p.Gly98Ser) rs1554901851 0.00002
NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=) rs778225010 0.00002
NM_000525.4(KCNJ11):c.970G>A (p.Gly324Arg) rs1193170151 0.00002
NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly) rs138125678 0.00001
NM_000525.4(KCNJ11):c.1094G>A (p.Arg365His) rs750689750 0.00001
NM_000525.4(KCNJ11):c.1105C>T (p.Arg369Cys) rs371275937 0.00001
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His) rs1479483693 0.00001
NM_000525.4(KCNJ11):c.463G>A (p.Val155Met) rs587783668 0.00001
NM_000525.4(KCNJ11):c.527G>A (p.Arg176His) rs1266231295 0.00001
NM_000525.4(KCNJ11):c.636C>T (p.Ser212=) rs759487287 0.00001
NM_000525.4(KCNJ11):c.684C>T (p.Gly228=) rs746308356 0.00001
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753 0.00001
NM_000525.4(KCNJ11):c.819C>T (p.Ser273=) rs202238153 0.00001
NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys) rs1174593640 0.00001
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys) rs1440128889
NM_000525.4(KCNJ11):c.-135_-134insCT rs1554901983
NM_000525.4(KCNJ11):c.1005C>A (p.Asn335Lys) rs1564864998
NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys) rs543286136
NM_000525.4(KCNJ11):c.1126G>T (p.Ala376Ser) rs1953567712
NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp) rs1001873841
NM_000525.4(KCNJ11):c.264G>T (p.Met88Ile) rs1554901866
NM_000525.4(KCNJ11):c.309C>A (p.Ser103Arg) rs376773562
NM_000525.4(KCNJ11):c.49C>T (p.Leu17=) rs1287370462
NM_000525.4(KCNJ11):c.558T>C (p.His186=) rs1953583830
NM_000525.4(KCNJ11):c.617G>T (p.Arg206Leu) rs1554901747
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His) rs768909861
NM_000525.4(KCNJ11):c.797C>T (p.Pro266Leu) rs1554901679
NM_000525.4(KCNJ11):c.841_843del (p.Leu281del) rs1554901658
NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile) rs761575495
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser) rs550315112

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