ClinVar Miner

List of variants reported as benign for renal-hepatic-pancreatic dysplasia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_153240.4(NPHP3):c.-69A>G rs13099099 0.49619
NM_178170.3(NEK8):c.1170T>C (p.Gly390=) rs3809797 0.16512
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=) rs6794496 0.13621
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=) rs16839515 0.04323
NM_153240.5(NPHP3):c.*266G>A rs11708200 0.03396
NM_153240.5(NPHP3):c.*657C>T rs79224795 0.03141
NM_153240.5(NPHP3):c.2571-7T>C rs62292468 0.02974
NM_153240.5(NPHP3):c.*785G>A rs6774366 0.02518
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449 0.01825
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_153240.5(NPHP3):c.57G>C (p.Thr19=) rs192633696 0.01128
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_153240.5(NPHP3):c.1887+6G>A rs79113972 0.00654
NM_153240.5(NPHP3):c.*759G>A rs116338839 0.00632
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053 0.00629
NM_153240.5(NPHP3):c.*815G>A rs141464909 0.00625
NM_153240.5(NPHP3):c.520-10C>G rs200144727 0.00362
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val) rs142663818 0.00142
NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser) rs117872197 0.00011
NM_153240.5(NPHP3):c.3125+7dup rs11396595
NM_153240.5(NPHP3):c.394-89AT[7] rs10590809
NM_178170.3(NEK8):c.1732+8_1732+10del rs3833163

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